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.L84F

c.250C>T

Surrounding Variants

1 paper

NM_002529.4

p.L84_L90del7

c.250_269del21

12 papers

NM_002529.4

p.R85S

c.253C>A

1 paper

NM_002529.4

p.E83K

c.247G>A

2 papers

NM_002529.4

p.R85H

c.254G>A

1 paper

NM_002529.4

p.R85P

c.254G>C

1 paper

NM_002529.4

p.E83delFs

c.247delG

1 paper

NM_002529.4

p.H81Y

c.241C>T

1 paper

NM_002529.4

p.L87L

c.259C>T

4 papers

NM_002529.4

p.Q80R

c.239A>G

1 paper

NM_002529.4

p.G89delFs

c.266delG

1 paper

NM_002529.4

p.Q80*

c.238C>T

4 papers

NM_002529.4

p.L79Q

c.236T>A