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.A636A

c.1908G>T

Surrounding Variants

1 paper

NM_002529.4

p.A636V

c.1907C>T

2 papers

NM_002529.4

p.G637W

c.1909G>T

1 paper

NM_002529.4

p.A636T

c.1906G>A

1 paper

NM_002529.4

p.G637V

c.1910G>T

1 paper

NM_002529.4

p.A635T

c.1903G>A

2 papers

NM_001012331.2

p.A629P

c.1885G>C

1 paper

NM_002529.4

p.V639L

c.1915G>C

2 papers

NM_002529.4

p.V639L

c.1915G>T

1 paper

NM_002529.4

p.S632fs

c.1894_1895fs

1 paper

NM_002529.4

p.L641P

c.1922T>C

1 paper

NM_002529.4

p.A631A

c.1893T>G

2 papers

NM_002529.4

p.A642V

c.1925C>T