Varaico: Literature-Extracted Genetic Variants

Gene:SIX5
Variant:p.G407E

SIX5

135 papers

RefSeq Summary

The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotoni...

Pfam Domains

SIX1_SDaa 86–196UCSCTranscriptional regulator, SIX1, N-terminal SD domain
Homeodomainaa 206–258UCSCHomeodomain

Gene Aliases

HGNC Name

SIX homeobox 5

HGNC Previous Symbol

DMAHP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_175875.5
p.G407E
c.1220G>A
Surrounding Variants
1 paper
NM_175875.5
p.A408T
c.1222G>A
1 paper
NM_175875.5
p.A402A
c.1206C>T
1 paper
NM_175875.5
p.V421I
c.1261G>A
1 paper
NM_175875.5
p.P424H
c.1271C>A
1 paper
NM_175875.5
p.P430A
c.1288C>G
1 paper
NM_175875.5
p.E379Q
c.1135G>C
1 paper
NM_175875.5
p.S378R
c.1134C>G
1 paper
NM_175875.5
p.S378R
c.1134C>A
1 paper
NM_175875.5
p.S378R
c.1132A>C
1 paper
NM_175875.5
p.P441S
c.1321C>T
1 paper
NM_175875.5
p.P369T
c.1105C>A
1 paper
NM_175875.5
p.P444_A447del0
c.1332_1340del9
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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."