Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.Y225C

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.Y225C
c.674A>G
Surrounding Variants
7 papers
NM_005413.4
p.L226V
c.676C>G
1 paper
NM_005413.4
p.Q227*
c.679C>T
2 papers
NM_005413.4
p.Q227P
c.680A>C
1 paper
NM_005413.4
p.E223K
c.667G>A
4 papers
NM_005413.4
p.P229L
c.686C>T
1 paper
NM_005413.4
p.L221fs
c.661_662fs
1 paper
NM_005413.4
p.P231S
c.691C>T
5 papers
NM_005413.4
p.P231R
c.692C>G
1 paper
NM_005413.4
p.N232_S234del0
c.694_702del9
1 paper
NM_005413.4
p.S219_L220insFs
c.656_659dup4
1 paper
NM_005413.4
p.S219G
c.655A>G
1 paper
NM_005413.4
p.R218R
c.654G>T
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