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.G63E

c.188G>A

Surrounding Variants

1 paper

NM_001012338.3

p.N64H

c.190A>C

2 papers

NM_001012338.3

p.D61V

c.182A>T

1 paper

NM_001012338.3

p.D61G

c.182A>G

1 paper

NM_001012338.3

p.Q60_D61delins

c.180_181delinsAA

1 paper

NM_001012338.3

p.G59V

c.176G>T

2 papers

NM_001012338.3

p.G67E

c.200G>A

1 paper

NM_001012338.3

p.A69T

c.205G>A

1 paper

NM_001012338.3

p.A69fs

c.205_206fs

3 papers

NM_001012338.3

p.I71V

c.211A>G

1 paper

NM_001012338.3

p.P55H

c.164C>A

1 paper

NM_001012338.3

p.I71_N72insFs

c.213_214insT

1 paper

NM_001012338.3

p.L53insFs

c.158_159ins5