Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.V200D

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.V200D
c.599T>A
Surrounding Variants
1 paper
NM_000232.5
p.V200G
c.599T>G
1 paper
NM_000232.5
p.V200F
c.598G>T
1 paper
NM_000232.5
p.Q201*
c.601C>T
1 paper
NM_000232.5
p.Q201P
c.602A>C
1 paper
NM_000232.5
p.L198S
c.593T>C
1 paper
NM_000232.5
p.L198V
c.592T>G
1 paper
NM_000232.5
p.K202N
c.606G>T
1 paper
NM_000232.5
p.K202N
c.606G>C
3 papers
NM_000232.5
p.A203P
c.607G>C
1 paper
NM_000232.5
p.A203E
c.608C>A
2 papers
NM_000232.5
p.S204P
c.610T>C
1 paper
NM_000232.5
p.K196N
c.588A>T
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