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.N52K

c.156C>G

Surrounding Variants

1 paper

NM_001012338.3

p.N52K

c.156C>A

1 paper

NM_001012338.3

p.L53F

c.157C>T

1 paper

NM_001012338.3

p.L53V

c.157C>G

2 papers

NM_001012338.3

p.L53I

c.157C>A

1 paper

NM_001012338.3

p.L53insFs

c.158_159ins5

1 paper

NM_001012338.3

p.L53R

c.158T>G

1 paper

NM_001012338.3

p.D50Y

c.148G>T

1 paper

NM_001012338.3

p.D50N

c.148G>A

1 paper

NM_001012338.3

p.P55H

c.164C>A

1 paper

NM_001012338.3

p.D49V

c.146A>T

2 papers

NM_001012338.3

p.P48S

c.142C>T

1 paper

NM_001012338.3

p.P48T

c.142C>A