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.G219W

c.655G>T

Surrounding Variants

6 papers

NM_002529.4

p.R220W

c.658C>T

3 papers

NM_002529.4

p.R220Q

c.659G>A

1 paper

NM_002529.4

p.G221A

c.662G>C

2 papers

NM_002529.4

p.Q216L

c.647A>T

1 paper

NM_002529.4

p.Q216*

c.646C>T

1 paper

NM_002529.4

p.L222_W227del0

c.665_679del15

5 papers

NM_002529.4

p.E223K

c.667G>A

43 papers

NM_002529.4

p.E223Q

c.667G>C

1 paper

NM_002529.4

p.E223*

c.667G>T

4 papers

NM_002529.4

p.R214Q

c.641G>A

1 paper

NM_002529.4

p.R214insFs

c.641_642insT

4 papers

NM_002529.4

p.R214W

c.640C>T