Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.W113C

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
3 papers
NM_005413.4
p.W113C
c.339G>C
Surrounding Variants
4 papers
NM_005413.4
p.W113*
c.339G>A
3 papers
NM_005413.4
p.W113C
c.339G>T
4 papers
NM_005413.4
p.W113*
c.338G>A
1 paper
NM_005413.4
p.S114fs
c.340_341fs
3 papers
NM_005413.4
p.S114L
c.341C>T
1 paper
NM_005413.4
p.P116T
c.346C>A
1 paper
NM_005413.4
p.V117M
c.349G>A
1 paper
NM_005413.4
p.R110_W113del0
c.329_337del9
1 paper
NM_005413.4
p.P119delFs
c.357delC
1 paper
NM_005413.4
p.G109C
c.325G>T
1 paper
NM_005413.4
p.P119L
c.356C>T
1 paper
NM_005413.4
p.L108fs
c.322_323fs
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