Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.E188A

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
1 paper
NM_000232.5
p.E188A
c.563A>C
Surrounding Variants
1 paper
NM_000232.5
p.E188D
c.564G>T
1 paper
NM_000232.5
p.E188D
c.564G>C
1 paper
NM_000232.5
p.F189V
c.565T>G
1 paper
NM_000232.5
p.F189I
c.565T>A
1 paper
NM_000232.5
p.F189C
c.566T>G
1 paper
NM_000232.5
p.F189S
c.566T>C
1 paper
NM_000232.5
p.H187Y
c.559C>T
1 paper
NM_000232.5
p.T186A
c.556A>G
1 paper
NM_000232.5
p.T186P
c.556A>C
1 paper
NM_000232.5
p.L191W
c.572T>G
1 paper
NM_000232.5
p.L191S
c.572T>C
1 paper
NM_000232.5
p.L191delFs
c.572delA
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."