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.E42K

c.124G>A

Surrounding Variants

1 paper

NM_001012338.3

p.T41N

c.122C>A

1 paper

NM_001012338.3

p.T41A

c.121A>G

1 paper

NM_001012338.3

p.S39R

c.117C>G

1 paper

NM_001012338.3

p.S39R

c.117C>A

3 papers

NM_001012338.3

p.N44S

c.131A>G

1 paper

NM_001012338.3

p.C38_N44delFs

c.112_131del20

1 paper

NM_001012338.3

p.S39R

c.115A>C

1 paper

NM_001012338.3

p.C38R

c.112T>C

1 paper

NM_001012338.3

p.R46W

c.136C>T

1 paper

NM_001012338.3

p.R46P

c.137G>C

1 paper

NM_001012338.3

p.V37delFs

c.110delA

2 papers

NM_001012338.3

p.P48S

c.142C>T