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

6 papers

NM_001012338.3

p.G497R

c.1489G>C

Surrounding Variants

1 paper

NM_001012338.3

p.G497W

c.1489G>T

6 papers

NM_001012338.3

p.G497R

c.1489G>A

6 papers

NM_001012338.3

p.A496A

c.1488C>G

3 papers

NM_001012338.3

p.A496V

c.1487C>T

1 paper

NM_001012338.3

p.D495E

c.1485T>G

1 paper

NM_001012338.3

p.D495E

c.1485T>A

7 papers

NM_001012338.3

p.D499N

c.1495G>A

1 paper

NM_001012338.3

p.V502F

c.1504G>T

1 paper

NM_001012338.3

p.P491L

c.1472C>T

1 paper

NM_001012338.3

p.V502V

c.1506C>A

1 paper

NM_001012338.3

p.T490M

c.1469C>T

1 paper

NM_001012338.3

p.G504C

c.1510G>T