Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.V250A

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
11 papers
NM_005413.4
p.V250A
c.749T>C
Surrounding Variants
1 paper
NM_005413.4
p.N252fs
c.754_755fs
1 paper
NM_005413.4
p.T248_Q249del1
c.743_745delCAC
3 papers
NM_005413.4
p.W253R
c.757T>A
3 papers
NM_005413.4
p.W253R
c.757T>C
3 papers
NM_005413.4
p.F254L
c.760T>C
3 papers
NM_005413.4
p.F254V
c.760T>G
3 papers
NM_005413.4
p.F254L
c.762T>A
3 papers
NM_005413.4
p.F254L
c.762T>G
2 papers
NM_005413.4
p.T246delFs
c.736delA
1 paper
NM_005413.4
p.G244D
c.731G>A
2 papers
NM_005413.4
p.G244C
c.730G>T
2 papers
NM_005413.4
p.R257G
c.769C>G
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