Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.G244D

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.G244D
c.731G>A
Surrounding Variants
2 papers
NM_005413.4
p.G244C
c.730G>T
2 papers
NM_005413.4
p.T246delFs
c.736delA
2 papers
NM_005413.4
p.Q241*
c.721C>T
1 paper
NM_005413.4
p.T248_Q249del1
c.743_745delCAC
1 paper
NM_005413.4
p.A240A
c.720G>T
1 paper
NM_005413.4
p.A240E
c.719C>A
1 paper
NM_005413.4
p.A240T
c.718G>A
11 papers
NM_005413.4
p.V250A
c.749T>C
1 paper
NM_005413.4
p.R237R
c.711C>A
1 paper
NM_005413.4
p.N252fs
c.754_755fs
3 papers
NM_005413.4
p.W253R
c.757T>A
3 papers
NM_005413.4
p.W253R
c.757T>C
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