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

15 papers

NM_001012338.3

p.F617L

c.1849T>C

Surrounding Variants

2 papers

NM_001012338.3

p.F617I

c.1849T>A

15 papers

NM_001012338.3

p.F617L

c.1851T>G

15 papers

NM_001012338.3

p.F617L

c.1851T>A

1 paper

NM_001012338.3

p.V616I

c.1846G>A

1 paper

NM_001012338.3

p.M620I

c.1860G>T

1 paper

NM_001012338.3

p.M620I

c.1860G>C

1 paper

NM_001012338.3

p.M620I

c.1860G>A

2 papers

NM_001012338.3

p.P612H

c.1835C>A

3 papers

NM_001012338.3

p.P612T

c.1834C>A

1 paper

NM_001012338.3

p.H622N

c.1864C>A

1 paper

NM_001012338.3

p.D611E

c.1833C>G

1 paper

NM_001012338.3

p.D611E

c.1833C>A