| Gene ID | 5349 |
| Symbol | FXYD3 |
| Synonymous | MAT8|PLML |
| Full name | FXYD domain containing ion transport regulator 3 |
| Gene description | FXYD domain-containing ion transport regulator 3|chloride conductance inducer protein Mat-8|mammary tumor 8 kDa protein|phospholemman-like protein |
| Cytoband | 19q13.12 |
| Gene type | protein-coding |
| Synonymous | MIM:604996; HGNC:HGNC:4027; Ensembl:ENSG00000089356; HPRD:05410; Vega:OTTHUMG00000184625 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.121G>T; p.G41W; 19:35122788-35122788 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.80A>G; p.N27S; 19:35121228-35121228 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9G>T; p.K3N; 19:35119385-35119385 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.83G>A; p.S28N; 19:35121231-35121231 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.46C>T; p.P16S; 19:35121083-35121083 |
skin | malignant_melanoma | Substitution - Missense |
c.238_239delCT; p.S81fs*>33; 19:35122905-35122906 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.80A>T; p.N27I; 19:35121228-35121228 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.154G>T; p.G52C; 19:35122821-35122821 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.300G>T; p.G100G; 19:35123283-35123283 |
skin | malignant_melanoma | Substitution - coding silent |
c.121G>C; p.G41R; 19:35122788-35122788 |
breast | carcinoma | Substitution - Missense |
c.103C>A; p.H35N; 19:35122770-35122770 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.166G>C; p.V56L; 19:35122833-35122833 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.341G>C; p.*114S; 19:35123456-35123456 |
breast | carcinoma | Nonstop extension |
c.232A>G; p.T78A; 19:35122899-35122899 |
breast | carcinoma | Substitution - Missense |
c.97+10C>G; p.?; 19:35121255-35121255 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.175G>T; p.E59*; 19:35122842-35122842 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.152T>C; p.M51T; 19:35122819-35122819 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.32T>G; p.F11C; 19:35119408-35119408 |
breast | carcinoma | Substitution - Missense |
c.87T>G; p.P29P; 19:35121235-35121235 |
prostate | carcinoma | Substitution - coding silent |