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.E560delFs

c.1680delG

Surrounding Variants

1 paper

NM_001012331.2

p.E554delFs

c.1660delG

1 paper

NM_002529.4

p.R559H

c.1676G>A

9 papers

NM_002529.4

p.Q558Q

c.1674G>A

NM_001007792.1

p.Q522Q

c.1566G>A

1 paper

NM_002529.4

p.Q558H

c.1674G>C

1 paper

NM_002529.4

p.Q558H

c.1674G>T

1 paper

NM_002529.4

p.E562V

c.1685A>T

4 papers

NM_002529.4

p.Q558*

c.1672C>T

1 paper

NM_002529.4

p.F557Y

c.1670T>A

1 paper

NM_002529.4

p.L563P

c.1688T>C

1 paper

NM_002529.4

p.F557I

c.1669T>A

1 paper

NM_002529.4

p.F557_Q558del2

c.1669_1673del6

1 paper

NM_002529.4

p.L564H

c.1691T>A