Varaico: Literature-Extracted Genetic Variants

NTRK3

674 papers

RefSeq Summary

This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of th...

Pfam Domains

LRRNTaa 31–58UCSCLeucine rich repeat N-terminal domain

LRR_8aa 103–162UCSCLeucine rich repeat

LRRCT_2aa 163–208UCSCLeucine rich repeat C-terminal motif

igaa 217–297UCSCImmunoglobulin domain

I-setaa 316–392UCSCImmunoglobulin I-set domain

PK_Tyr_Ser-Thraa 440–617UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

neurotrophic receptor tyrosine kinase 3

HGNC Alias Symbol

TRKC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001012338.3

p.D75N

c.223G>A

Surrounding Variants

3 papers

NM_001012338.3

p.I76I

c.228C>T

1 paper

NM_001012338.3

p.R78G

c.232A>G

1 paper

NM_001012338.3

p.R78K

c.233G>A

1 paper

NM_001012338.3

p.I71_N72insFs

c.213_214insT

3 papers

NM_001012338.3

p.I71V

c.211A>G

1 paper

NM_001012338.3

p.N79S

c.236A>G

1 paper

NM_001012338.3

p.A69T

c.205G>A

1 paper

NM_001012338.3

p.A69fs

c.205_206fs

2 papers

NM_001012338.3

p.G67E

c.200G>A

1 paper

NM_001012338.3

p.S82S

c.246C>A

1 paper

NM_001012338.3

p.N64H

c.190A>C

1 paper

NM_001012338.3

p.G63E

c.188G>A