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.W230*

c.690G>A

Surrounding Variants

1 paper

NM_006180.6

p.W230*

c.689G>A

1 paper

NM_006180.6

p.V232F

c.694G>T

1 paper

NM_006180.6

p.N234I

c.701A>T

1 paper

NM_006180.6

p.N234K

c.702C>A

1 paper

NM_006180.6

p.N234K

c.702C>G

1 paper

NM_006180.6

p.P224P

c.672G>A

1 paper

NM_006180.6

p.S237F

c.710C>T

1 paper

NM_006180.6

p.D223E

c.669T>A

1 paper

NM_006180.6

p.D223E

c.669T>G

4 papers

NM_006180.6

p.D223H

c.667G>C

1 paper

NM_006180.6

p.M240delFs

c.718_719delAT

1 paper

NM_006180.6

p.A221T

c.661G>A