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.Y516C

c.1547A>G

Surrounding Variants

1 paper

NM_001012338.3

p.Y516F

c.1547A>T

1 paper

NM_001012338.3

p.Q515H

c.1545G>T

1 paper

NM_001012338.3

p.Q515H

c.1545G>C

1 paper

NM_001012338.3

p.R518S

c.1552C>A

1 paper

NM_001012338.3

p.R518H

c.1553G>A

1 paper

NM_001012338.3

p.P514R

c.1541C>G

1 paper

NM_001012338.3

p.P514H

c.1541C>A

1 paper

NM_001012338.3

p.P514delins

c.1540_1541delinsAA

2 papers

NM_001012338.3

p.N513K

c.1539C>G

2 papers

NM_001012338.3

p.N513K

c.1539C>A

1 paper

NM_001012338.3

p.G520E

c.1559G>A

1 paper

NM_001012338.3

p.E512K

c.1534G>A