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.W299R

c.895T>A

Surrounding Variants

1 paper

NM_002529.4

p.W299R

c.895T>C

5 papers

NM_002529.4

p.H298Q

c.894C>A

5 papers

NM_002529.4

p.H298Q

c.894C>G

1 paper

NM_002529.4

p.W299_C300delins

c.896_899delinsG

1 paper

NM_002529.4

p.W299insFs

c.896_897insC

1 paper

NM_002529.4

p.H298D

c.892C>G

1 paper

NM_002529.4

p.H298Y

c.892C>T

2 papers

NM_002529.4

p.C300delins

c.899_900delinsAA

3 papers

NM_002529.4

p.C300*

c.900C>A

1 paper

NM_002529.4

p.I301fs

c.901_902fs

1 paper

NM_002529.4

p.P302_G307del6

c.904_920del18

1 paper

NM_002529.4

p.P302S

c.904C>T