Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.G186insFs

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
5 papers
NM_005413.4
p.G186insFs
c.556_557dupGG
Surrounding Variants
1 paper
NM_005413.4
p.L185L
c.555C>A
1 paper
NM_005413.4
p.G186_P187insFs
c.558_559insGG
1 paper
NM_005413.4
p.P184_L185ins0
c.550_555dup6
2 papers
NM_005413.4
p.P184delFs
c.551delC
1 paper
NM_005413.4
p.R183S
c.547C>A
1 paper
NM_005413.4
p.R183fs
c.547_548fs
1 paper
NM_005413.4
p.R181H
c.542G>A
1 paper
NM_005413.4
p.G182_V188delFs
c.546_562del17
2 papers
NM_005413.4
p.R181_R192insFs
c.542_576dup35
2 papers
NM_005413.4
p.R192S
c.574C>A
3 papers
NM_005413.4
p.R192R
c.576C>T
1 paper
NM_005413.4
p.V193M
c.577G>A
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