Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.G39G

SIX3

156 papers

RefSeq Summary

This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosenceph...

Pfam Domains

SIX1_SDaa 87–201UCSCTranscriptional regulator, SIX1, N-terminal SD domain
Homeodomainaa 207–263UCSCHomeodomain

Gene Aliases

HGNC Name

SIX homeobox 3

HGNC Previous Symbol

HPE2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005413.4
p.G39G
c.117A>T
Surrounding Variants
1 paper
NM_005413.4
p.A38_G42delFs
c.112_124del13
1 paper
NM_005413.4
p.G37D
c.110G>A
6 papers
NM_005413.4
p.G37C
c.109G>T
1 paper
NM_005413.4
p.A44A
c.132G>T
2 papers
NM_005413.4
p.G45*
c.133G>T
1 paper
NM_005413.4
p.G34R
c.100G>C
1 paper
NM_005413.4
p.S32R
c.96C>G
4 papers
NM_005413.4
p.A30A
c.90G>T
1 paper
NM_005413.4
p.I27L
c.79A>C
1 paper
NM_005413.4
p.N52T
c.155A>C
1 paper
NM_005413.4
p.I27L
c.79A>T
1 paper
NM_005413.4
p.S26Y
c.77C>A
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