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

2 papers

NM_002529.4

p.P621insFs

c.1861_1862insT

Surrounding Variants

3 papers

NM_002529.4

p.P621fs

c.1861_1862fs

3 papers

NM_002529.4

p.P621S

c.1861C>T

5 papers

NM_002529.4

p.P621fs

c.1861_1862fs

5 papers

NM_002529.4

p.G620_P621insFs

c.1860_1861insT

NM_001012331.2

p.G614_P615insFs

c.1842_1843insT

1 paper

NM_001012331.2

p.G614_P615insFs

c.1842_1843insTT

3 papers

NM_002529.4

p.G620G

c.1860C>T

1 paper

NM_002529.4

p.G620D

c.1859G>A

1 paper

NM_002529.4

p.G620Fs

c.1859delinsTCCFs

1 paper

NM_002529.4

p.L622delFs

c.1865delT

1 paper

NM_002529.4

p.L622fs

c.1864_1865fs

1 paper

NM_002529.4

p.G620delins

c.1858_1859delinsTC

1 paper

NM_002529.4

p.L622L

c.1866G>A