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.G44R

c.130G>C

Surrounding Variants

1 paper

NM_002529.4

p.G44C

c.130G>T

1 paper

NM_002529.4

p.S45Y

c.134C>A

4 papers

NM_002529.4

p.P42S

c.124C>T

1 paper

NM_002529.4

p.C41S

c.122G>C

1 paper

NM_002529.4

p.C41F

c.122G>T

1 paper

NM_002529.4

p.C41S

c.121T>A

1 paper

NM_002529.4

p.C40Y

c.119G>A

2 papers

NM_002529.4

p.R49G

c.145C>G

1 paper

NM_002529.4

p.R49*

c.145C>T

1 paper

NM_002529.4

p.A39T

c.115G>A

1 paper

NM_002529.4

p.R49P

c.146G>C

1 paper

NM_002529.4

p.D38A

c.113A>C