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.A8D

c.23C>A

Surrounding Variants

1 paper

NM_001012338.3

p.P7R

c.20C>G

1 paper

NM_001012338.3

p.S11C

c.31A>T

1 paper

NM_001012338.3

p.S11_F12delins

c.33_34delinsCT

1 paper

NM_001012338.3

p.L5V

c.13C>G

1 paper

NM_001012338.3

p.S4fs

c.10_11fs

1 paper

NM_001012338.3

p.F12F

c.36C>T

1 paper

NM_001012338.3

p.W13delins

c.38_39delinsTT

1 paper

NM_001012338.3

p.D2fs

c.4_5fs

1 paper

NM_001012338.3

p.M1_D2insFs

c.3_4insA

1 paper

NM_001012338.3

p.F16L

c.46T>C

1 paper

NM_001012338.3

p.F16L

c.48C>G

1 paper

NM_001012338.3

p.F16L

c.48C>A