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

22 papers

NM_001012338.3

p.G696A

c.2087G>C

Surrounding Variants

1 paper

NM_001012338.3

p.D697H

c.2089G>C

1 paper

NM_001012338.3

p.D697N

c.2089G>A

1 paper

NM_001012338.3

p.D697fs

c.2089_2090fs

2 papers

NM_001012338.3

p.I695T

c.2084T>C

1 paper

NM_001012338.3

p.K694delFs

c.2081_2082delCT

1 paper

NM_001012338.3

p.D697delFs

c.2089delC

2 papers

NM_001012338.3

p.I695V

c.2083A>G

1 paper

NM_001012338.3

p.F698L

c.2092T>C

1 paper

NM_001012338.3

p.F698L

c.2094C>G

1 paper

NM_001012338.3

p.F698L

c.2094C>A

2 papers

NM_001012338.3

p.G699S

c.2095G>A

1 paper

NM_001012338.3

p.G699A

c.2096G>C