Varaico: Literature-Extracted Genetic Variants

Gene:SIX4
Variant:p.Y247S

SIX4

64 papers

RefSeq Summary

This gene encodes a member of the homeobox family, subfamily SIX. The drosophila homolog is a nuclear homeoprotein required for eye development. Studies in mouse show that this gene product functions ...

Pfam Domains

SIX1_SDaa 108–218UCSCTranscriptional regulator, SIX1, N-terminal SD domain
Homeodomainaa 228–280UCSCHomeodomain

Gene Aliases

HGNC Name

SIX homeobox 4

HGNC Alias Symbol

AREC3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017420.5
p.Y247S
c.740A>C
Surrounding Variants
1 paper
NM_017420.5
p.I259insFs
c.775_776insAC
1 paper
NM_017420.5
p.E232K
c.694G>A
1 paper
NM_017420.5
p.K231R
c.692A>G
1 paper
NM_017420.5
p.K231_E232insGGC
c.691_695ins9
1 paper
NM_017420.5
p.V205G
c.614T>G
1 paper
NM_017420.5
p.G203insFs
c.608_609ins7
1 paper
NM_017420.5
p.E175V
c.524A>T
1 paper
NM_017420.5
p.E175Q
c.523G>C
1 paper
NM_017420.5
p.I168M
c.504C>G
1 paper
NM_017420.5
p.L165F
c.493C>T
1 paper
NM_017420.5
p.A156insFs
c.467_468insT
1 paper
NM_017420.5
p.K150_A153del4
c.448_458del12
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