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.V308L

c.922G>C

Surrounding Variants

1 paper

NM_001012338.3

p.V308L

c.922G>T

3 papers

NM_001012338.3

p.V307L

c.919G>T

3 papers

NM_001012338.3

p.V307L

c.919G>C

2 papers

NM_001012338.3

p.V307M

c.919G>A

2 papers

NM_001012338.3

p.S309I

c.926G>T

1 paper

NM_001012338.3

p.R306P

c.917G>C

4 papers

NM_001012338.3

p.R306H

c.917G>A

2 papers

NM_001012338.3

p.R306C

c.916C>T

1 paper

NM_001012338.3

p.P304L

c.911C>T

2 papers

NM_001012338.3

p.Y303Splc

c.908-1G>A

1 paper

NM_001012338.3

p.E314D

c.942G>T

1 paper

NM_001012338.3

p.E314D

c.942G>C