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

1–12 of 1492 variants

62 papers

NM_002529.4

p.G595R

c.1783G>A

62 papers

NM_002529.4

p.G595R

c.1783G>C

45 papers

NM_002529.4

p.F284Splc

c.851-33T>A

44 papers

NM_002529.4

p.G667C

c.1999G>T

43 papers

NM_002529.4

p.E223Q

c.667G>C

26 papers

NM_002529.4

p.G18E

c.53G>A

25 papers

NM_002529.4

p.H604Y

c.1810C>T

22 papers

NM_002529.4

p.L213P

c.638T>C

20 papers

NM_002529.4

p.F589L

c.1765T>C

20 papers

NM_002529.4

p.F589L

c.1767T>A

20 papers

NM_002529.4

p.F589L

c.1767T>G

18 papers

NM_002529.4

p.M1insFs

c.2dupT