Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.Y10S

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.Y10S
c.29A>C
Surrounding Variants
1 paper
NM_005413.4
p.S11S
c.33C>A
1 paper
NM_005413.4
p.P6R
c.17C>G
1 paper
NM_005413.4
p.P6A
c.16C>G
1 paper
NM_005413.4
p.L16L
c.46T>C
1 paper
NM_005413.4
p.N18Y
c.52A>T
1 paper
NM_005413.4
p.V2L
c.4G>C
1 paper
NM_005413.4
p.V2L
c.4G>T
1 paper
NM_005413.4
p.A20A
c.60C>T
1 paper
NM_005413.4
p.D21delFs
c.63delT
1 paper
NM_005413.4
p.H23P
c.68A>C
1 paper
NM_005413.4
p.H24insFs
c.71dupA
2 papers
NM_005413.4
p.R25C
c.73C>T
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