Varaico: Literature-Extracted Genetic Variants

Gene:SIX4

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
1–12 of 66 variants
4 papers
NM_017420.5
p.L576L
c.1726C>T
4 papers
NM_017420.5
p.H605P
c.1814A>C
2 papers
NM_017420.5
p.A74V
c.221C>T
2 papers
NM_017420.5
p.Y332N
c.994T>A
2 papers
NM_017420.5
p.G446D
c.1337G>A
1 paper
NM_017420.5
p.M1insFs
c.1dupA
1 paper
NM_017420.5
p.I16M
c.48C>G
1 paper
NM_017420.5
p.G38_G42delFs
c.112_124del13
1 paper
NM_017420.5
p.P45A
c.133C>G
1 paper
NM_017420.5
p.P46fs
c.136_137fs
1 paper
NM_017420.5
p.P50_F51delFs
c.150_153del4
1 paper
NM_017420.5
p.E54Q
c.160G>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."