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.N355D

c.1063A>G

Surrounding Variants

1 paper

NM_002529.4

p.N355S

c.1064A>G

1 paper

NM_002529.4

p.V354A

c.1061T>C

3 papers

NM_002529.4

p.V354I

c.1060G>A

1 paper

NM_002529.4

p.V354F

c.1060G>T

2 papers

NM_002529.4

p.G357_Y359insFs

c.1069_1076dup8

1 paper

NM_002529.4

p.H353N

c.1057C>A

1 paper

NM_002529.4

p.G357_N358insFs

c.1071_1072ins4

1 paper

NM_002529.4

p.T352N

c.1055C>A

1 paper

NM_002529.4

p.G357G

c.1071C>A

1 paper

NM_002529.4

p.N358fs

c.1072_1073fs

2 papers

NM_002529.4

p.Y359_P366ins2

c.1076_1096dup21

1 paper

NM_002529.4

p.Y359fs

c.1075_1076fs