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.F545L

c.1635T>G

Surrounding Variants

1 paper

NM_006180.6

p.F545L

c.1635T>A

1 paper

NM_006180.6

p.F545L

c.1633T>C

1 paper

NM_006180.6

p.T544A

c.1630A>G

1 paper

NM_006180.6

p.F545Splc

c.1633+7A>G

1 paper

NM_006180.6

p.P542T

c.1624C>A

1 paper

NM_006180.6

p.K541Q

c.1621A>C

1 paper

NM_006180.6

p.F545Splc

c.1633+27T>A

1 paper

NM_001018064.3

p.Y516F

c.1547A>T

2 papers

NM_006180.6

p.Q531E

c.1591C>G

1 paper

NM_006180.6

p.E528G

c.1583A>G

1 paper

NM_006180.6

p.I524N

c.1571T>A

1 paper

NM_006180.6

p.P514fs

c.1540_1541fs