Varaico: Literature-Extracted Genetic Variants

Gene:HES2

HES2

22 papers

Pfam Domains

HLHaa 14–71UCSCHelix-loop-helix DNA-binding domain
Hairy_orangeaa 85–124UCSCHairy Orange

Gene Aliases

HGNC Name

hes family bHLH transcription factor 2

HGNC Alias Symbol

bHLHb40

Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
1 paper
NM_019089.5
p.D9E
c.27C>G
1 paper
NM_019089.5
p.D9E
c.27C>A
1 paper
NM_019089.5
p.L20L
c.60G>A
1 paper
NM_019089.5
p.R25W
c.73C>T
1 paper
NM_019089.5
p.K53N
c.159G>T
1 paper
NM_019089.5
p.K53N
c.159G>C
1 paper
NM_019089.5
p.L54R
c.161T>G
1 paper
NM_019089.5
p.A72S
c.214G>T
1 paper
NM_019089.5
p.S73F
c.218C>T
1 paper
NM_019089.5
p.P82L
c.245C>T
1 paper
NM_019089.5
p.A95E
c.284C>A
1 paper
NM_019089.5
p.D135N
c.403G>A
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