Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.R218W

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
2 papers
NM_005413.4
p.R218W
c.652C>T
Surrounding Variants
2 papers
NM_005413.4
p.R218P
c.653G>C
1 paper
NM_005413.4
p.S219_L221del3
c.655_662del9
1 paper
NM_005413.4
p.R218R
c.654G>T
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.L221fs
c.661_662fs
1 paper
NM_005413.4
p.E223K
c.667G>A
2 papers
NM_005413.4
p.F213V
c.637T>G
1 paper
NM_005413.4
p.Y225C
c.674A>G
1 paper
NM_005413.4
p.T210delFs
c.629delC
7 papers
NM_005413.4
p.L226V
c.676C>G
1 paper
NM_005413.4
p.K209fs
c.625_626fs
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