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.R316G

c.946C>G

Surrounding Variants

1 paper

NM_001012338.3

p.R316C

c.946C>T

1 paper

NM_001012338.3

p.E314D

c.942G>T

1 paper

NM_001012338.3

p.E314D

c.942G>C

1 paper

NM_001012338.3

p.E318K

c.952G>A

1 paper

NM_001012338.3

p.E318D

c.954G>T

1 paper

NM_001012338.3

p.E318D

c.954G>C

1 paper

NM_001012338.3

p.H319N

c.955C>A

1 paper

NM_001012338.3

p.C320F

c.959G>T

2 papers

NM_001012338.3

p.C320Y

c.959G>A

3 papers

NM_001012338.3

p.E322K

c.964G>A

2 papers

NM_001012338.3

p.S309I

c.926G>T

1 paper

NM_001012338.3

p.V308L

c.922G>T