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.F16L

c.48C>G

Surrounding Variants

1 paper

NM_001012338.3

p.F16L

c.48C>A

1 paper

NM_001012338.3

p.F16L

c.46T>C

1 paper

NM_001012338.3

p.W13delins

c.38_39delinsTT

1 paper

NM_001012338.3

p.S20R

c.58A>C

1 paper

NM_001012338.3

p.F12F

c.36C>T

1 paper

NM_001012338.3

p.S20R

c.60C>G

1 paper

NM_001012338.3

p.S20R

c.60C>A

7 papers

NM_001012338.3

p.V21F

c.61G>T

1 paper

NM_001012338.3

p.V21A

c.62T>C

1 paper

NM_001012338.3

p.S11_F12delins

c.33_34delinsCT

1 paper

NM_001012338.3

p.S11C

c.31A>T

1 paper

NM_001012338.3

p.D24N

c.70G>A