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.R89C

c.265C>T

Surrounding Variants

1 paper

NM_001012338.3

p.R89G

c.265C>G

3 papers

NM_001012338.3

p.R89H

c.266G>A

1 paper

NM_001012338.3

p.L91F

c.271C>T

9 papers

NM_001012338.3

p.T93M

c.278C>T

1 paper

NM_001012338.3

p.T93T

c.279G>T

3 papers

NM_001012338.3

p.H84Y

c.250C>T

1 paper

NM_001012338.3

p.L94H

c.281T>A

1 paper

NM_001012338.3

p.N95K

c.285C>A

1 paper

NM_001012338.3

p.N95delFs

c.284delT

2 papers

NM_001012338.3

p.A96T

c.286G>A

1 paper

NM_001012338.3

p.D98Y

c.292G>T

1 paper

NM_001012338.3

p.D98N

c.292G>A