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.V704D

c.2111T>A

Surrounding Variants

1 paper

NM_001012338.3

p.Y705N

c.2113T>A

1 paper

NM_001012338.3

p.S706I

c.2117G>T

1 paper

NM_001012338.3

p.R702T

c.2105G>C

1 paper

NM_001012338.3

p.R702G

c.2104A>G

5 papers

NM_001012338.3

p.T707M

c.2120C>T

3 papers

NM_001012338.3

p.S701F

c.2102C>T

1 paper

NM_001012338.3

p.S701T

c.2101T>A

1 paper

NM_001012338.3

p.G699A

c.2096G>C

2 papers

NM_001012338.3

p.Y709F

c.2126A>T

2 papers

NM_001012338.3

p.G699S

c.2095G>A

1 paper

NM_001012338.3

p.F698L

c.2094C>G

1 paper

NM_001012338.3

p.F698L

c.2094C>A