Varaico: Literature-Extracted Genetic Variants

Gene:SIX5
Variant:p.V693M

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
3 papers
NM_175875.5
p.V693M
c.2077G>A
Surrounding Variants
1 paper
NM_175875.5
p.D700N
c.2098G>A
1 paper
NM_175875.5
p.T709delFs
c.2125delT
1 paper
NM_175875.5
p.G711A
c.2132G>C
1 paper
NM_175875.5
p.G668W
c.2002G>T
1 paper
NM_175875.5
p.V664L
c.1990G>C
1 paper
NM_175875.5
p.A660_A661ins0
c.1980_1982dupGGC
1 paper
NM_175875.5
p.A660E
c.1979C>A
3 papers
NM_175875.5
p.A660T
c.1978G>A
1 paper
NM_175875.5
p.Q727H
c.2181G>T
1 paper
NM_175875.5
p.Q727H
c.2181G>C
1 paper
NM_175875.5
p.L728delFs
c.2184delG
1 paper
NM_175875.5
p.S730L
c.2189C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."