Entrez Gene

Basic Information
Gene ID	7009
Name	TMBIM6
Synonymous	transmembrane BAX inhibitor motif containing 6;TMBIM6;transmembrane BAX inhibitor motif containing 6
Definition	bax inhibitor 1\|testis enhanced gene transcript\|testis-enhanced gene transcript protein\|transmembrane BAX inhibitor motif-containing protein 6
Position	12q13.12
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.241G>T; p.E81*; 12:49755710-49755710	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.514-1G>T; p.?; 12:49759220-49759220	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.226C>T; p.H76Y; 12:49755695-49755695	urinary_tract; bladder	carcinoma	Substitution - Missense
c.139G>A; p.V47I; 12:49753055-49753055	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.103G>T; p.A35S; 12:49753019-49753019	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.390C>G; p.L130L; 12:49758437-49758437	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.301C>T; p.P101S; 12:49758241-49758241	skin; trunk	malignant_melanoma	Substitution - Missense
c.347C>T; p.T116I; 12:49758394-49758394	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.106delC; p.L36fs*30; 12:49753022-49753022	kidney	carcinoma; renal_cell_carcinoma	Deletion - Frameshift
c.369G>A; p.M123I; 12:49758416-49758416	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.11T>C; p.F4S; 12:49752504-49752504	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.713G>T; p.*238L; 12:49762895-49762895	oesophagus	carcinoma	Nonstop extension
c.171C>T; p.G57G; 12:49755640-49755640	parathyroid	carcinoma	Substitution - coding silent
c.190T>C; p.S64P; 12:49755659-49755659	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.629_631delTCT; p.F211delF; 12:49761718-49761720	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.554T>A; p.V185D; 12:49759261-49759261	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.675G>A; p.L225L; 12:49761764-49761764	prostate	carcinoma	Substitution - coding silent
c.230G>A; p.S77N; 12:49755699-49755699	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.300C>T; p.G100G; 12:49758240-49758240	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.330C>A; p.N110K; 12:49758270-49758270	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.55A>G; p.I19V; 12:49752548-49752548	pancreas	carcinoma	Substitution - Missense
c.299G>A; p.G100D; 12:49758239-49758239	urinary_tract; bladder	carcinoma	Substitution - Missense
c.47T>G; p.F16C; 12:49752540-49752540	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.691G>A; p.D231N; 12:49762873-49762873	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.60C>T; p.T20T; 12:49752976-49752976	skin	malignant_melanoma	Substitution - coding silent
c.505C>T; p.L169F; 12:49758754-49758754	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.552C>T; p.F184F; 12:49759259-49759259	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]