Varaico: Literature-Extracted Genetic Variants

Gene:NTRK2
Variant:p.H671R

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.H671R
c.2012A>G
Surrounding Variants
1 paper
NM_006180.6
p.H671N
c.2011C>A
1 paper
NM_006180.6
p.H671Y
c.2011C>T
2 papers
NM_006180.6
p.I672V
c.2014A>G
2 papers
NM_006180.6
p.L670M
c.2008C>A
1 paper
NM_006180.6
p.Q674L
c.2021A>T
2 papers
NM_006180.6
p.Q675*
c.2023C>T
3 papers
NM_006180.6
p.S667W
c.2000C>G
1 paper
NM_006180.6
p.S667L
c.2000C>T
4 papers
NM_006180.6
p.Q666R
c.1997A>G
1 paper
NM_006180.6
p.I676I
c.2028C>T
1 paper
NM_006180.6
p.A677T
c.2029G>A
2 papers
NM_006180.6
p.T665M
c.1994C>T
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