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

3 papers

NM_006180.6

p.R715G

c.2143C>G

Surrounding Variants

4 papers

NM_006180.6

p.R715W

c.2143C>T

4 papers

NM_006180.6

p.R715Q

c.2144G>A

1 paper

NM_006180.6

p.S714F

c.2141C>T

2 papers

NM_006180.6

p.M713I

c.2139G>A

2 papers

NM_006180.6

p.M713I

c.2139G>C

2 papers

NM_006180.6

p.M713I

c.2139G>T

1 paper

NM_006180.6

p.Y718_S719del2

c.2152_2156del6

1 paper

NM_006180.6

p.S719T

c.2156G>C

3 papers

NM_006180.6

p.T720I

c.2159C>T

1 paper

NM_006180.6

p.G709E

c.2126G>A

1 paper

NM_006180.6

p.Y723del1

c.2167_2168delTAC

1 paper

NM_006180.6

p.D721E

c.2163C>A