Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.I151V

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.I151V
c.451A>G
Surrounding Variants
2 papers
NM_005413.4
p.H155del1
c.463_464delCAC
1 paper
NM_005413.4
p.L148fs
c.442_443fs
1 paper
NM_005413.4
p.D147_I151delFs
c.441_451del11
1 paper
NM_005413.4
p.H155P
c.464A>C
1 paper
NM_005413.4
p.R146C
c.436C>T
2 papers
NM_005413.4
p.K156insFs
c.467_468insT
3 papers
NM_005413.4
p.F157I
c.469T>A
2 papers
NM_005413.4
p.G143D
c.428G>A
1 paper
NM_005413.4
p.G143R
c.427G>C
1 paper
NM_005413.4
p.E160Q
c.478G>C
1 paper
NM_005413.4
p.H141delFs
c.422delA
1 paper
NM_005413.4
p.H162fs
c.484_485fs
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