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.T489S

c.1466C>G

Surrounding Variants

1 paper

NM_001012338.3

p.T489S

c.1465A>T

1 paper

NM_001012338.3

p.I488T

c.1463T>C

1 paper

NM_001012338.3

p.T490M

c.1469C>T

1 paper

NM_001012338.3

p.I488V

c.1462A>G

1 paper

NM_001012338.3

p.P491L

c.1472C>T

1 paper

NM_001012338.3

p.G487S

c.1459G>A

1 paper

NM_001012338.3

p.H486P

c.1457A>C

1 paper

NM_001012338.3

p.H486N

c.1456C>A

1 paper

NM_001012338.3

p.N485Y

c.1453A>T

1 paper

NM_001012338.3

p.D495E

c.1485T>G

1 paper

NM_001012338.3

p.D495E

c.1485T>A

1 paper

NM_001012338.3

p.H483N

c.1447C>A