Varaico: Literature-Extracted Genetic Variants

Gene:SIX4
Variant:p.E54Q

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.E54Q
c.160G>C
Surrounding Variants
1 paper
NM_017420.5
p.P55L
c.164C>T
1 paper
NM_017420.5
p.P50_F51delFs
c.150_153del4
1 paper
NM_017420.5
p.P46fs
c.136_137fs
1 paper
NM_017420.5
p.P45A
c.133C>G
1 paper
NM_017420.5
p.A63A
c.189C>A
1 paper
NM_017420.5
p.G38_G42delFs
c.112_124del13
2 papers
NM_017420.5
p.A74V
c.221C>T
1 paper
NM_017420.5
p.A77_G78ins1
c.231_232insGGC
1 paper
NM_017420.5
p.I16M
c.48C>G
1 paper
NM_017420.5
p.G92G
c.276C>T
1 paper
NM_017420.5
p.A98insFs
c.293_294insC
1 paper
NM_017420.5
p.A99P
c.295G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."