Varaico: Literature-Extracted Genetic Variants

NTRK2

558 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 31–60UCSCLeucine rich repeat N-terminal domain

LRR_8aa 91–150UCSCLeucine rich repeat

LRRCT_2aa 151–195UCSCLeucine rich repeat C-terminal motif

I-setaa 197–283UCSCImmunoglobulin I-set domain

I-setaa 298–377UCSCImmunoglobulin I-set domain

PK_Tyr_Ser-Thraa 538–807UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

neurotrophic receptor tyrosine kinase 2

HGNC Alias Symbol

TRKB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006180.6

p.R42G

c.124C>G

Surrounding Variants

1 paper

NM_006180.6

p.A40G

c.119C>G

2 papers

NM_006180.6

p.C45F

c.134G>T

1 paper

NM_006180.6

p.S46C

c.136A>T

1 paper

NM_006180.6

p.D47G

c.140A>G

1 paper

NM_006180.6

p.S35S

c.105C>A

1 paper

NM_006180.6

p.C36insFs

c.106dupT

1 paper

NM_006180.6

p.P50del1

c.148_149delCCT

1 paper

NM_006180.6

p.P33P

c.99C>G

1 paper

NM_006180.6

p.G51S

c.151G>A

1 paper

NM_006180.6

p.A31V

c.92C>T

2 papers

NM_006180.6

p.A31T

c.91G>A

1 paper

NM_006180.6

p.V53M

c.157G>A