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.G11_W12delins

c.33_34delinsCT

Surrounding Variants

1 paper

NM_002529.4

p.W12R

c.34T>A

1 paper

NM_002529.4

p.W12delFs

c.35delG

1 paper

NM_002529.4

p.W12delFs

c.35_36delGG

2 papers

NM_002529.4

p.W12*

c.35G>A

1 paper

NM_002529.4

p.W12insFs

c.35_36ins10

2 papers

NM_002529.4

p.W12L

c.35G>T

2 papers

NM_002529.4

p.L10P

c.29T>C

2 papers

NM_002529.4

p.W12*

c.36G>A

1 paper

NM_002529.4

p.H13del1

c.37_39delCAC

1 paper

NM_002529.4

p.H13insFs

c.37_38insGT

1 paper

NM_002529.4

p.H13insFs

c.37_38ins4

1 paper

NM_002529.4

p.H13R

c.38A>G