| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7080 |
Name | NKX2-1 |
Synonymous | BCH|BHC|NK-2|NKX2.1|NKX2A|TEBP|TITF1|TTF-1|TTF1;NK2 homeobox 1;NKX2-1;NK2 homeobox 1 |
Definition | NK-2 homolog A|homeobox protein NK-2 homolog A|homeobox protein Nkx-2.1|thyroid nuclear factor 1|thyroid transcription factor 1 |
Position | 14q13 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for NKX2-1 | ||
PCGP somatic mutation [Top] | ||
There is no record for NKX2-1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1090A>G; p.T364A; |
liver | carcinoma; hepatocellular_carcinoma |
c.143C>T; p.P48L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.943G>A; p.A315T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1039C>A; p.L347M; |
pancreas | carcinoma; acinar_carcinoma |
c.343G>A; p.G115S; |
pancreas | carcinoma; acinar_carcinoma |
c.195C>T; p.T65T; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.632A>G; p.N211S; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.281T>C; p.M94T; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.567G>C; p.P189P; |
lung | carcinoma; adenocarcinoma |
c.33C>T; p.F11F; |
lung | carcinoma; adenocarcinoma |
c.275G>A; p.G92D; 14:36058039-36058039 |
skin | malignant_melanoma |
c.41C>A; p.S14Y; |
autonomic_ganglia | neuroblastoma |
c.116C>T; p.A39V; |
lung | carcinoma; adenocarcinoma |
c.424G>C; p.G142R; |
lung | carcinoma; squamous_cell_carcinoma |
c.1095G>A; p.L365L; |
lung | carcinoma; squamous_cell_carcinoma |
c.400G>A; p.G134S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.705C>T; p.G235G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.560C>T; p.S187L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.996C>T; p.H332H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.652C>T; p.R218C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1040T>C; p.L347P; |
large_intestine; colon | carcinoma; adenocarcinoma |