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

14 papers

NM_006180.6

p.Y434C

c.1301A>G

Surrounding Variants

1 paper

NM_006180.6

p.Y434F

c.1301A>T

1 paper

NM_006180.6

p.A435S

c.1303G>T

1 paper

NM_006180.6

p.S432_V433Splc

c.1297-4C>G

1 paper

NM_006180.6

p.I439V

c.1315A>G

1 paper

NM_006180.6

p.A440V

c.1319C>T

1 paper

NM_006180.6

p.V442M

c.1324G>A

2 papers

NM_006180.6

p.G444*

c.1330G>T

1 paper

NM_006180.6

p.G444E

c.1331G>A

1 paper

NM_006180.6

p.L447I

c.1339C>A

3 papers

NM_006180.6

p.V449I

c.1345G>A

1 paper

NM_006180.6

p.M450V

c.1348A>G

1 paper

NM_006180.6

p.M450I

c.1350G>A