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.T593I

c.1778C>T

Surrounding Variants

1 paper

NM_001012338.3

p.N594S

c.1781A>G

2 papers

NM_001012338.3

p.E590D

c.1770G>T

2 papers

NM_001012338.3

p.E590D

c.1770G>C

1 paper

NM_001012338.3

p.Q596*

c.1786C>T

1 paper

NM_001012338.3

p.E590Q

c.1768G>C

1 paper

NM_001012338.3

p.A589V

c.1766C>T

1 paper

NM_001012338.3

p.A589T

c.1765G>A

1 paper

NM_001012338.3

p.E588A

c.1763A>C

5 papers

NM_001012338.3

p.H599Y

c.1795C>T

1 paper

NM_001012338.3

p.H599ins0

c.1795_1797dupCAC

1 paper

NM_001012338.3

p.I600N

c.1799T>A

1 paper

NM_001012338.3

p.H599_I600delins

c.1796_1799delinsG