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.V29M

c.85G>A

Surrounding Variants

1 paper

NM_001012338.3

p.G27A

c.80G>C

1 paper

NM_001012338.3

p.A31T

c.91G>A

1 paper

NM_001012338.3

p.C32F

c.95G>T

1 paper

NM_001012338.3

p.D24N

c.70G>A

1 paper

NM_001012338.3

p.L23del1

c.67_68delCAG

2 papers

NM_001012338.3

p.A34E

c.101C>A

1 paper

NM_001012338.3

p.V21A

c.62T>C

7 papers

NM_001012338.3

p.V21F

c.61G>T

1 paper

NM_001012338.3

p.S20R

c.60C>G

1 paper

NM_001012338.3

p.S20R

c.60C>A

1 paper

NM_001012338.3

p.V37delFs

c.110delA

1 paper

NM_001012338.3

p.C38R

c.112T>C