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.F619L

c.1857C>A

Surrounding Variants

1 paper

NM_006180.6

p.F619L

c.1857C>G

1 paper

NM_006180.6

p.F619L

c.1855T>C

1 paper

NM_006180.6

p.K618T

c.1853A>C

1 paper

NM_006180.6

p.K618R

c.1853A>G

2 papers

NM_006180.6

p.V622I

c.1864G>A

4 papers

NM_006180.6

p.I616I

c.1848C>A

1 paper

NM_006180.6

p.C623*

c.1869C>A

1 paper

NM_006180.6

p.H613Y

c.1837C>T

1 paper

NM_006180.6

p.Q612H

c.1836G>C

1 paper

NM_006180.6

p.Q612H

c.1836G>T

1 paper

NM_006180.6

p.D627N

c.1879G>A

1 paper

NM_006180.6

p.D627E

c.1881C>A