Varaico: Literature-Extracted Genetic Variants

Gene:SIX4
Variant:p.V678D

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.V678D
c.2033T>A
Surrounding Variants
1 paper
NM_017420.5
p.A692G
c.2075C>G
1 paper
NM_017420.5
p.S655F
c.1964C>T
1 paper
NM_017420.5
p.R712C
c.2134C>T
1 paper
NM_017420.5
p.R712H
c.2135G>A
1 paper
NM_017420.5
p.A638V
c.1913C>T
1 paper
NM_017420.5
p.S615C
c.1844C>G
4 papers
NM_017420.5
p.H605P
c.1814A>C
1 paper
NM_017420.5
p.E597K
c.1789G>A
1 paper
NM_017420.5
p.N593I
c.1778A>T
1 paper
NM_017420.5
p.E765E
c.2295G>A
1 paper
NM_017420.5
p.A767V
c.2300C>T
4 papers
NM_017420.5
p.L576L
c.1726C>T
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