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.S479N

c.1436G>A

Surrounding Variants

1 paper

NM_001012338.3

p.L481V

c.1441C>G

2 papers

NM_001012338.3

p.S477L

c.1430C>T

1 paper

NM_001012338.3

p.S477A

c.1429T>G

1 paper

NM_001012338.3

p.S477T

c.1429T>A

1 paper

NM_001012338.3

p.D476Y

c.1426G>T

2 papers

NM_001012338.3

p.D476N

c.1426G>A

1 paper

NM_001012338.3

p.H483N

c.1447C>A

1 paper

NM_001012338.3

p.E475*

c.1423G>T

1 paper

NM_001012338.3

p.E475K

c.1423G>A

1 paper

NM_001012338.3

p.G473fs

c.1417_1418fs

1 paper

NM_001012338.3

p.G473delFs

c.1418delC

1 paper

NM_001012338.3

p.N485Y

c.1453A>T