Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.R258L

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
2 papers
NM_005413.4
p.R258L
c.773G>T
Surrounding Variants
1 paper
NM_005413.4
p.R258P
c.773G>C
1 paper
NM_005413.4
p.R258W
c.772C>T
1 paper
NM_005413.4
p.R258delFs
c.773delG
1 paper
NM_005413.4
p.R258R
c.774G>T
12 papers
NM_005413.4
p.R257P
c.770G>C
2 papers
NM_005413.4
p.R257G
c.769C>G
7 papers
NM_005413.4
p.R257W
c.769C>T
1 paper
NM_005413.4
p.R257fs
c.769_770fs
1 paper
NM_005413.4
p.Q259Q
c.777G>A
2 papers
NM_005413.4
p.R260delFs
c.778delC
1 paper
NM_005413.4
p.R260fs
c.778_779fs
1 paper
NM_005413.4
p.R262fs
c.784_785fs
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