Varaico: Literature-Extracted Genetic Variants

NTRK1

1,469 papers

RefSeq Summary

This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of th...

Pfam Domains

LRRCT_2aa 151–192UCSCLeucine rich repeat C-terminal motif

TrkA_TMDaa 417–438UCSCTyrosine kinase receptor A trans-membrane domain

PK_Tyr_Ser-Thraa 510–781UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

neurotrophic receptor tyrosine kinase 1

HGNC Alias Symbols

TRK; TRKA; MTC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002529.4

p.G8insFs

c.23dupG

Surrounding Variants

3 papers

NM_002529.4

p.R7C

c.19C>T

8 papers

NM_002529.4

p.Q9*

c.25C>T

1 paper

NM_002529.4

p.R6Q

c.17G>A

15 papers

NM_002529.4

p.R6W

c.16C>T

1 paper

NM_002529.4

p.G5R

c.13G>A

8 papers

NM_002529.4

p.G5R

c.13G>C

1 paper

NM_002529.4

p.G5*

c.13G>T

2 papers

NM_002529.4

p.L10P

c.29T>C

1 paper

NM_002529.4

p.G4D

c.11G>A

5 papers

NM_002529.4

p.G4S

c.10G>A

1 paper

NM_002529.4

p.G11_W12delins

c.33_34delinsCT

1 paper

NM_002529.4

p.R3Q

c.8G>A