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.G361D

c.1082G>A

Surrounding Variants

1 paper

NM_001012338.3

p.C362S

c.1084T>A

1 paper

NM_001012338.3

p.C362S

c.1085G>C

1 paper

NM_001012338.3

p.E360G

c.1079A>G

2 papers

NM_001012338.3

p.E360K

c.1078G>A

1 paper

NM_001012338.3

p.L363fs

c.1087_1088fs

1 paper

NM_001012338.3

p.S359F

c.1076C>T

1 paper

NM_001012338.3

p.I358I

c.1074T>C

1 paper

NM_001012338.3

p.L364F

c.1090C>T

1 paper

NM_001012338.3

p.L364P

c.1091T>C

1 paper

NM_001012338.3

p.E357D

c.1071G>T

1 paper

NM_001012338.3

p.E357D

c.1071G>C

1 paper

NM_001012338.3

p.K367N

c.1101G>T