Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.A172V

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
3 papers
NM_005413.4
p.A172V
c.515C>T
Surrounding Variants
2 papers
NM_005413.4
p.A172T
c.514G>A
1 paper
NM_005413.4
p.H173D
c.517C>G
7 papers
NM_005413.4
p.H173P
c.518A>C
3 papers
NM_005413.4
p.Y174H
c.520T>C
1 paper
NM_005413.4
p.Y174*
c.522C>A
1 paper
NM_005413.4
p.Y174*
c.522C>G
1 paper
NM_005413.4
p.W169*
c.507G>A
1 paper
NM_005413.4
p.W169*
c.506G>A
1 paper
NM_005413.4
p.Q175Q
c.525G>A
4 papers
NM_005413.4
p.W169delFs
c.507delG
1 paper
NM_005413.4
p.A167S
c.499G>T
2 papers
NM_005413.4
p.R181_R192insFs
c.542_576dup35
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