Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.Q5_T10del6

SGCG

503 papers

RefSeq Summary

This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is compris...

Pfam Domains

Sarcoglycan_1aa 25–280UCSCSarcoglycan complex subunit protein

Gene Aliases

HGNC Name

sarcoglycan gamma

HGNC Previous Symbols

DMDA1; MAM; LGMD2C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000231.3
p.Q5_T10del6
c.13_29del18
Surrounding Variants
1 paper
NM_000231.3
p.E4Fs
c.12delinsAAFs
1 paper
NM_000231.3
p.Q5*
c.13C>T
1 paper
NM_000231.3
p.Q5R
c.14A>G
2 papers
NM_000231.3
p.T7_T8delFs
c.19_23del5
1 paper
NM_000231.3
p.E4insFs
c.10dupG
1 paper
NM_000231.3
p.R3G
c.7C>G
1 paper
NM_000231.3
p.R3ins1
c.7_8insATC
1 paper
NM_000231.3
p.V2L
c.4G>C
1 paper
NM_000231.3
p.V2L
c.4G>T
1 paper
NM_000231.3
p.M1I
c.3G>A
1 paper
NM_000231.3
p.M1I
c.3G>C
2 papers
NM_000231.3
p.M1I
c.3G>T
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