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.R603H

c.1808G>A

Surrounding Variants

1 paper

NM_006180.6

p.H602N

c.1804C>A

2 papers

NM_006180.6

p.D600E

c.1800C>A

1 paper

NM_006180.6

p.K599_D600delins

c.1796_1799delinsG

1 paper

NM_006180.6

p.K599ins0

c.1795_1797dupAAG

1 paper

NM_006180.6

p.R598H

c.1793G>A

1 paper

NM_006180.6

p.R598C

c.1792C>T

1 paper

NM_006180.6

p.A597S

c.1789G>T

1 paper

NM_006180.6

p.L611I

c.1831C>A

1 paper

NM_006180.6

p.L611F

c.1831C>T

1 paper

NM_006180.6

p.D595G

c.1784A>G

1 paper

NM_006180.6

p.Q612H

c.1836G>C

1 paper

NM_006180.6

p.Q612H

c.1836G>T