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

7 papers

NM_006180.6

p.A203T

c.607G>A

Surrounding Variants

1 paper

NM_006180.6

p.A202G

c.605C>G

1 paper

NM_006180.6

p.A202V

c.605C>T

11 papers

NM_006180.6

p.P204H

c.611C>A

1 paper

NM_006180.6

p.L201M

c.601C>A

1 paper

NM_006180.6

p.V208_S213del0

c.622_639del18

2 papers

NM_006180.6

p.S198C

c.593C>G

1 paper

NM_006180.6

p.P197L

c.590C>T

1 paper

NM_006180.6

p.L196Fs

c.587delinsGGFs

1 paper

NM_006180.6

p.E210Q

c.628G>C

1 paper

NM_006180.6

p.G195V

c.584G>T

1 paper

NM_006180.6

p.G211V

c.632G>T

1 paper

NM_006180.6

p.S213F

c.638C>T