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.N188I

c.563A>T

Surrounding Variants

1 paper

NM_006180.6

p.N188D

c.562A>G

1 paper

NM_006180.6

p.A187T

c.559G>A

1 paper

NM_006180.6

p.L186Q

c.557T>A

1 paper

NM_006180.6

p.L186L

c.556C>T

1 paper

NM_006180.6

p.G195Splc

c.583+1G>C

1 paper

NM_006180.6

p.G195V

c.584G>T

1 paper

NM_006180.6

p.S180G

c.538A>G

1 paper

NM_006180.6

p.C176F

c.527G>T

1 paper

NM_006180.6

p.Y175Y

c.525C>T

1 paper

NM_006180.6

p.D173Y

c.517G>T

1 paper

NM_006180.6

p.Q172_L186del15

c.514_557del45

1 paper

NM_006180.6

p.D170_T171insGC

c.508_512ins6