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.G20R

c.58G>C

Surrounding Variants

1 paper

NM_002529.4

p.S21C

c.61A>T

1 paper

NM_002529.4

p.P19S

c.55C>T

1 paper

NM_002529.4

p.P19fs

c.55_56fs

1 paper

NM_002529.4

p.L23del1

c.67_68delCTG

26 papers

NM_002529.4

p.G18E

c.53G>A

1 paper

NM_002529.4

p.G18R

c.52G>A

1 paper

NM_002529.4

p.G18R

c.52G>C

1 paper

NM_002529.4

p.A17E

c.50C>A

1 paper

NM_002529.4

p.A17insFs

c.50_51insT

1 paper

NM_002529.4

p.G18delFs

c.54delG

2 papers

NM_002529.4

p.A24insFs

c.70_71insG

1 paper

NM_002529.4

p.A16insFs

c.47_48insGT