Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.R135_A136insFs

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
4 papers
NM_005413.4
p.R135_A136insFs
c.404_407dup4
Surrounding Variants
4 papers
NM_005413.4
p.A136insFs
c.406_407dupGC
1 paper
NM_005413.4
p.A136delFs
c.406_407delGC
2 papers
NM_005413.4
p.S130*
c.389C>A
1 paper
NM_005413.4
p.A134V
c.401C>T
2 papers
NM_005413.4
p.R135_V137insFs
c.405_409dup5
1 paper
NM_005413.4
p.R135H
c.404G>A
5 papers
NM_005413.4
p.R135P
c.404G>C
5 papers
NM_005413.4
p.E129*
c.385G>T
1 paper
NM_005413.4
p.A136T
c.406G>A
2 papers
NM_005413.4
p.A136fs
c.406_407fs
1 paper
NM_005413.4
p.V137fs
c.409_410fs
1 paper
NM_005413.4
p.V138_T142delFs
c.413_425del13
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."