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

2 papers

NM_006180.6

p.K133N

c.399A>C

Surrounding Variants

2 papers

NM_006180.6

p.K133N

c.399A>T

1 paper

NM_006180.6

p.R132K

c.395G>A

2 papers

NM_006180.6

p.R136H

c.407G>A

1 paper

NM_006180.6

p.H137Y

c.409C>T

6 papers

NM_006180.6

p.L138F

c.412C>T

1 paper

NM_006180.6

p.L130insFs

c.389dupT

1 paper

NM_006180.6

p.D139H

c.415G>C

4 papers

NM_006180.6

p.L140F

c.420G>C

4 papers

NM_006180.6

p.L140F

c.420G>T

1 paper

NM_006180.6

p.E142K

c.424G>A

1 paper

NM_006180.6

p.N121S

c.362A>G

1 paper

NM_006180.6

p.I120Splc

c.360-1G>C