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.M12delins

c.34_35delinsAT

Surrounding Variants

1 paper

NM_006180.6

p.A11_M12delins

c.33_34delinsCT

3 papers

NM_006180.6

p.A11T

c.31G>A

1 paper

NM_006180.6

p.P10H

c.29C>A

2 papers

NM_006180.6

p.P10L

c.29C>T

1 paper

NM_006180.6

p.A13E

c.38C>A

1 paper

NM_006180.6

p.A13G

c.38C>G

1 paper

NM_006180.6

p.A13delins

c.38_39delinsTT

1 paper

NM_006180.6

p.G9G

c.27A>C

1 paper

NM_006180.6

p.R14W

c.40C>T

1 paper

NM_006180.6

p.R14Q

c.41G>A

1 paper

NM_006180.6

p.G9*

c.25G>T

1 paper

NM_006180.6

p.H8P

c.23A>C