Varaico: Literature-Extracted Genetic Variants

Gene:SEM1
Variant:p.S2L

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.S2L
c.5C>T
Surrounding Variants
1 paper
NM_006304.2
p.S2T
c.4T>A
1 paper
NM_006304.2
p.M1R
c.2T>G
1 paper
NM_006304.2
p.K5fs
c.13_14fs
3 papers
NM_006304.2
p.K5K
c.15G>A
1 paper
NM_006304.2
p.D9V
c.26A>T
2 papers
NM_006304.2
p.E18Q
c.52G>C
1 paper
NM_006304.2
p.E18A
c.53A>C
1 paper
NM_006304.2
p.E18D
c.54G>T
1 paper
NM_006304.2
p.E18D
c.54G>C
1 paper
NM_006304.2
p.E25K
c.73G>A
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