Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.I119F

SGCB

344 papers

RefSeq Summary

This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the musc...

Pfam Domains

Sarcoglycan_1aa 54–303UCSCSarcoglycan complex subunit protein

Gene Aliases

HGNC Name

sarcoglycan beta

HGNC Previous Symbol

LGMD2E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_000232.5
p.I119F
c.355A>T
Surrounding Variants
1 paper
NM_000232.5
p.I119S
c.356T>G
2 papers
NM_000232.5
p.I119N
c.356T>A
1 paper
NM_000232.5
p.H120Y
c.358C>T
1 paper
NM_000232.5
p.H120P
c.359A>C
1 paper
NM_000232.5
p.G117V
c.350G>T
1 paper
NM_000232.5
p.G117R
c.349G>C
1 paper
NM_000232.5
p.G117R
c.349G>A
1 paper
NM_000232.5
p.P121T
c.361C>A
1 paper
NM_000232.5
p.M116I
c.348G>T
1 paper
NM_000232.5
p.M116I
c.348G>C
1 paper
NM_000232.5
p.M116I
c.348G>A
1 paper
NM_000232.5
p.P121L
c.362C>T
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