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

3 papers

NM_001012338.3

p.R645H

c.1934G>A

Surrounding Variants

1 paper

NM_001012338.3

p.R645L

c.1934G>T

16 papers

NM_001012338.3

p.R645C

c.1933C>T

1 paper

NM_001012338.3

p.A647T

c.1939G>A

1 paper

NM_001012338.3

p.Q643K

c.1927C>A

1 paper

NM_001012338.3

p.D641Y

c.1921G>T

1 paper

NM_001012338.3

p.D641N

c.1921G>A

1 paper

NM_001012338.3

p.V640A

c.1919T>C

1 paper

NM_001012338.3

p.E650fs

c.1948_1949fs

1 paper

NM_001012338.3

p.L653I

c.1957C>A

1 paper

NM_001012338.3

p.L653fs

c.1957_1958fs

1 paper

NM_001012338.3

p.G652delFs

c.1956delC

1 paper

NM_001012338.3

p.L653P

c.1958T>C