Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.E106_R107del0

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.E106_R107del0
c.316_321del6
Surrounding Variants
2 papers
NM_005413.4
p.I105V
c.313A>G
1 paper
NM_005413.4
p.I105F
c.313A>T
4 papers
NM_005413.4
p.D104G
c.311A>G
1 paper
NM_005413.4
p.R107W
c.319C>T
1 paper
NM_005413.4
p.R107P
c.320G>C
1 paper
NM_005413.4
p.L108fs
c.322_323fs
1 paper
NM_005413.4
p.G109C
c.325G>T
1 paper
NM_005413.4
p.R110_W113del0
c.329_337del9
1 paper
NM_005413.4
p.E100D
c.300G>C
1 paper
NM_005413.4
p.T98insFs
c.293_294insC
4 papers
NM_005413.4
p.W113*
c.338G>A
4 papers
NM_005413.4
p.W113*
c.339G>A
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