Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.E100D

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.E100D
c.300G>C
Surrounding Variants
1 paper
NM_005413.4
p.T98insFs
c.293_294insC
4 papers
NM_005413.4
p.D104G
c.311A>G
1 paper
NM_005413.4
p.E97fs
c.289_290fs
1 paper
NM_005413.4
p.C96*
c.288T>A
2 papers
NM_005413.4
p.I105V
c.313A>G
1 paper
NM_005413.4
p.I105F
c.313A>T
1 paper
NM_005413.4
p.C96S
c.287G>C
1 paper
NM_005413.4
p.C96S
c.286T>A
1 paper
NM_005413.4
p.E106_R107del0
c.316_321del6
1 paper
NM_005413.4
p.R107W
c.319C>T
1 paper
NM_005413.4
p.R107P
c.320G>C
4 papers
NM_005413.4
p.A93D
c.278C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."