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.S373_I374delins

c.1118_1120delinsTTG

Surrounding Variants

1 paper

NM_002529.4

p.I374V

c.1120A>G

4 papers

NM_002529.4

p.A372T

c.1114G>A

1 paper

NM_002529.4

p.A372S

c.1114G>T

1 paper

NM_002529.4

p.S371S

c.1113C>T

3 papers

NM_002529.4

p.S371Y

c.1112C>A

1 paper

NM_002529.4

p.S371C

c.1112C>G

2 papers

NM_002529.4

p.S371F

c.1112C>T

1 paper

NM_002529.4

p.M375T

c.1124T>C

3 papers

NM_002529.4

p.M375I

c.1125G>A

2 papers

NM_002529.4

p.M375I

c.1125G>C

2 papers

NM_002529.4

p.M375I

c.1125G>T

1 paper

NM_002529.4

p.A376T

c.1126G>A