Varaico: Literature-Extracted Genetic Variants

Gene:SIX3

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
1–12 of 227 variants
12 papers
NM_005413.4
p.R257P
c.770G>C
11 papers
NM_005413.4
p.V250A
c.749T>C
7 papers
NM_005413.4
p.G69D
c.206G>A
7 papers
NM_005413.4
p.V92G
c.275T>G
7 papers
NM_005413.4
p.H173P
c.518A>C
7 papers
NM_005413.4
p.L226V
c.676C>G
7 papers
NM_005413.4
p.R257W
c.769C>T
6 papers
NM_005413.4
p.G37C
c.109G>T
5 papers
NM_005413.4
p.E129*
c.385G>T
5 papers
NM_005413.4
p.R135P
c.404G>C
5 papers
NM_005413.4
p.G186insFs
c.556_557dupGG
5 papers
NM_005413.4
p.P231R
c.692C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."