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.L628L

c.1882C>T

Surrounding Variants

1 paper

NM_002529.4

p.L628_A629Fs

c.1884_1886delinsCCCCTFs

1 paper

NM_002529.4

p.L627fs

c.1879_1880fs

1 paper

NM_002529.4

p.A629P

c.1885G>C

1 paper

NM_002529.4

p.Q626_L627insFs

c.1878_1879insA

1 paper

NM_001012331.2

p.Q620_L621insFs

c.1860_1861insT

7 papers

NM_002529.4

p.A629A

c.1887C>T

2 papers

NM_002529.4

p.Q626insFs

c.1877_1878insA

2 papers

NM_002529.4

p.Q626fs

c.1876_1877fs

3 papers

NM_002529.4

p.Q626*

c.1876C>T

5 papers

NM_002529.4

p.V630M

c.1888G>A

1 paper

NM_002529.4

p.G625E

c.1874G>A

1 paper

NM_002529.4

p.G625W

c.1873G>T