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.P401T

c.1201C>A

Surrounding Variants

1 paper

NM_001012338.3

p.E398*

c.1192G>T

1 paper

NM_001012338.3

p.E398Q

c.1192G>C

1 paper

NM_001012338.3

p.E398K

c.1192G>A

1 paper

NM_001012338.3

p.K397N

c.1191G>T

1 paper

NM_001012338.3

p.K397N

c.1191G>C

1 paper

NM_001012338.3

p.F395L

c.1185C>G

1 paper

NM_001012338.3

p.F395L

c.1185C>A

1 paper

NM_001012338.3

p.F395Y

c.1184T>A

1 paper

NM_001012338.3

p.F395L

c.1183T>C

1 paper

NM_001012338.3

p.H394Q

c.1182C>G

1 paper

NM_001012338.3

p.H394Q

c.1182C>A

1 paper

NM_001012338.3

p.G393V

c.1178G>T