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

3 papers

NM_002529.4

p.G614_E615insFs

c.1842_1843insT

Surrounding Variants

1 paper

NM_002529.4

p.E615*

c.1843G>T

1 paper

NM_002529.4

p.G614W

c.1840G>T

1 paper

NM_002529.4

p.G613D

c.1838G>A

19 papers

NM_001012331.2

p.G607V

c.1820G>T

NM_002529.4

p.G613V

c.1838G>T

NM_001007792.1

p.G577V

c.1730G>T

1 paper

NM_002529.4

p.V617L

c.1849G>C

1 paper

NM_002529.4

p.V617L

c.1849G>T

2 papers

NM_002529.4

p.P619A

c.1855C>G

1 paper

NM_002529.4

p.P619S

c.1855C>T

1 paper

NM_002529.4

p.G620delins

c.1858_1859delinsTC

2 papers

NM_002529.4

p.K609E

c.1825A>G

1 paper

NM_002529.4

p.G620D

c.1859G>A

1 paper

NM_002529.4

p.G620Fs

c.1859delinsTCCFs