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.A664V

c.1991C>T

Surrounding Variants

1 paper

NM_001012338.3

p.A664S

c.1990G>T

1 paper

NM_001012338.3

p.A664T

c.1990G>A

2 papers

NM_001012338.3

p.I663I

c.1989C>T

1 paper

NM_001012338.3

p.Q662H

c.1986G>T

1 paper

NM_001012338.3

p.Q662H

c.1986G>C

1 paper

NM_001012338.3

p.G666D

c.1997G>A

1 paper

NM_001012338.3

p.Q662*

c.1984C>T

1 paper

NM_001012338.3

p.S661I

c.1982G>T

1 paper

NM_001012338.3

p.V668M

c.2002G>A

1 paper

NM_001012338.3

p.V668G

c.2003T>G

1 paper

NM_001012338.3

p.V668E

c.2003T>A

1 paper

NM_001012338.3

p.H658Q

c.1974C>G