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.P329L

c.986C>T

Surrounding Variants

1 paper

NM_001012338.3

p.P329T

c.985C>A

1 paper

NM_001012338.3

p.P330fs

c.988_989fs

1 paper

NM_001012338.3

p.P330delFs

c.989delG

1 paper

NM_001012338.3

p.P331L

c.992C>T

1 paper

NM_001012338.3

p.P331Q

c.992C>A

2 papers

NM_001012338.3

p.G327C

c.979G>T

1 paper

NM_001012338.3

p.R326L

c.977G>T

3 papers

NM_001012338.3

p.R326H

c.977G>A

11 papers

NM_001012338.3

p.T332M

c.995C>T

3 papers

NM_001012338.3

p.R326C

c.976C>T

1 paper

NM_001012338.3

p.V324A

c.971T>C

1 paper

NM_001012338.3

p.W335R

c.1003T>C