Varaico: Literature-Extracted Genetic Variants

Gene:SSPN
Variant:p.K192N

SSPN

40 papers

RefSeq Summary

This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DG...

Pfam Domains

CD20aa 55–210UCSCCD20-like family

Gene Aliases

HGNC Name

sarcospan

HGNC Previous Symbol

KRAG

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_005086.5
p.K192N
c.576A>T
Surrounding Variants
8 papers
NM_005086.5
p.K192N
c.576A>C
1 paper
NM_005086.5
p.S186N
c.557G>A
1 paper
NM_005086.5
p.M199I
c.597G>A
1 paper
NM_005086.5
p.M199I
c.597G>C
1 paper
NM_005086.5
p.M199I
c.597G>T
1 paper
NM_005086.5
p.P167H
c.500C>A
1 paper
NM_005086.5
p.Y221S
c.662A>C
1 paper
NM_005086.5
p.V228I
c.682G>A
1 paper
NM_005086.5
p.S148P
c.442T>C
1 paper
NM_005086.5
p.Q240fs
c.718_719fs
1 paper
NM_005086.5
p.Q240L
c.719A>T
1 paper
NM_005086.5
p.S129S
c.387T>C
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