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.G659A

c.1976G>C

Surrounding Variants

2 papers

NM_002529.4

p.V658A

c.1973T>C

2 papers

NM_002529.4

p.Q660H

c.1980G>C

2 papers

NM_002529.4

p.Q660H

c.1980G>T

2 papers

NM_002529.4

p.L657P

c.1970T>C

2 papers

NM_002529.4

p.C656Y

c.1967G>A

1 paper

NM_001012331.2

p.V657A

c.1970T>C

1 paper

NM_002529.4

p.V664F

c.1990G>T

2 papers

NM_002529.4

p.R654H

c.1961G>A

1 paper

NM_002529.4

p.R654S

c.1960C>A

7 papers

NM_002529.4

p.R654C

c.1960C>T

NM_001012331.2

p.R648C

c.1942C>T

1 paper

NM_002529.4

p.A652S

c.1954G>T

1 paper

NM_002529.4

p.A652fs

c.1954_1955fs