Varaico: Literature-Extracted Genetic Variants

Gene:SEM1
Variant:p.E59Q

SEM1

36 papers

RefSeq Summary

The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of th...

Pfam Domains

DSS1_SEM1aa 5–62UCSCDSS1/SEM1 family

Gene Aliases

HGNC Name

SEM1 26S proteasome subunit

HGNC Previous Symbols

SHFD1; SHFM1; C7orf76

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006304.2
p.E59Q
c.175G>C
Surrounding Variants
2 papers
NM_006304.2
p.R57Q
c.170G>A
2 papers
NM_006304.2
p.R57*
c.169C>T
1 paper
NM_006304.2
p.E68*
c.202G>T
1 paper
NM_006304.2
p.T69P
c.205A>C
1 paper
NM_006304.2
p.R57Q
c.170G>A
1 paper
NM_006304.2
p.R57*
c.169C>T
1 paper
NM_006304.2
p.F52_S53delFs
c.155_159del5
1 paper
NM_006304.2
p.W39G
c.115T>G
1 paper
NM_006304.2
p.W39R
c.115T>C
1 paper
NM_006304.2
p.W39R
c.115T>A
1 paper
NM_006304.2
p.L30S
c.89T>C
1 paper
NM_006304.2
p.D26Splc
c.77-45A>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."