Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.A240A

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.A240A
c.720G>T
Surrounding Variants
1 paper
NM_005413.4
p.A240E
c.719C>A
2 papers
NM_005413.4
p.Q241*
c.721C>T
1 paper
NM_005413.4
p.A240T
c.718G>A
1 paper
NM_005413.4
p.R237R
c.711C>A
2 papers
NM_005413.4
p.G244C
c.730G>T
1 paper
NM_005413.4
p.G244D
c.731G>A
2 papers
NM_005413.4
p.T246delFs
c.736delA
1 paper
NM_005413.4
p.P233P
c.699C>T
1 paper
NM_005413.4
p.T248_Q249del1
c.743_745delCAC
1 paper
NM_005413.4
p.P233L
c.698C>T
1 paper
NM_005413.4
p.P233_K236del0
c.698_706del9
5 papers
NM_005413.4
p.P231R
c.692C>G
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