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

2 papers

NM_001012338.3

p.T528M

c.1583C>T

Surrounding Variants

1 paper

NM_001012338.3

p.T528K

c.1583C>A

1 paper

NM_001012338.3

p.D527G

c.1580A>G

2 papers

NM_001012338.3

p.D527Y

c.1579G>T

2 papers

NM_001012338.3

p.P526L

c.1577C>T

1 paper

NM_001012338.3

p.P526Q

c.1577C>A

1 paper

NM_001012338.3

p.K525Q

c.1573A>C

1 paper

NM_001012338.3

p.C523S

c.1568G>C

1 paper

NM_001012338.3

p.C523Y

c.1568G>A

1 paper

NM_001012338.3

p.C523S

c.1567T>A

1 paper

NM_001012338.3

p.H521Q

c.1563C>G

1 paper

NM_001012338.3

p.H521Q

c.1563C>A

1 paper

NM_001012338.3

p.H521Y

c.1561C>T