Varaico: Literature-Extracted Genetic Variants

Gene:SIX4
Variant:p.A552V

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.A552V
c.1655C>T
Surrounding Variants
1 paper
NM_017420.5
p.S546R
c.1638C>G
1 paper
NM_017420.5
p.S546R
c.1638C>A
1 paper
NM_017420.5
p.S546R
c.1636A>C
4 papers
NM_017420.5
p.L576L
c.1726C>T
1 paper
NM_017420.5
p.S522I
c.1565G>T
1 paper
NM_017420.5
p.N593I
c.1778A>T
1 paper
NM_017420.5
p.E597K
c.1789G>A
4 papers
NM_017420.5
p.H605P
c.1814A>C
1 paper
NM_017420.5
p.S615C
c.1844C>G
1 paper
NM_017420.5
p.A638V
c.1913C>T
1 paper
NM_017420.5
p.S655F
c.1964C>T
1 paper
NM_017420.5
p.V678D
c.2033T>A
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