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.M680I

c.2040G>T

Surrounding Variants

1 paper

NM_006180.6

p.M680I

c.2040G>A

1 paper

NM_006180.6

p.M680I

c.2040G>C

1 paper

NM_006180.6

p.G679D

c.2036G>A

1 paper

NM_006180.6

p.G679S

c.2035G>A

2 papers

NM_006180.6

p.A678T

c.2032G>A

1 paper

NM_006180.6

p.A677T

c.2029G>A

1 paper

NM_006180.6

p.I676I

c.2028C>T

2 papers

NM_006180.6

p.Q675*

c.2023C>T

1 paper

NM_006180.6

p.Q674L

c.2021A>T

2 papers

NM_006180.6

p.V689M

c.2065G>A

1 paper

NM_006180.6

p.V689L

c.2065G>C

1 paper

NM_006180.6

p.V689L

c.2065G>T