GAA c.302A>C ;(p.E101A)

Variant ID: 17-78078687-A-C

NM_000152.3(GAA):c.302A>C;(p.E101A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.

The Journal Of Clinical Investigation
Li, Chengcheng C; Wilborn, Jackson J; Pittman, Sara S; Daw, Jil J; Alonso-Pérez, Jorge J; Díaz-Manera, Jordi J; Weihl, Conrad C CC; Haller, Gabe G
Publication Date: 2023-06-15

Variant appearance in text: GAA: E101A
PubMed Link: 37317968
Variant Present in the following documents:
  • jci-133-168156-s148.xlsx, sheet 2
View BVdb publication page



Multiplexed Functional Assessment of Genetic Variants in CARD11.

American Journal Of Human Genetics
Meitlis, Iana I; Allenspach, Eric J EJ; Bauman, Bradly M BM; Phan, Isabelle Q IQ; Dabbah, Gina G; Schmitt, Erica G EG; Camp, Nathan D ND; Torgerson, Troy R TR; Nickerson, Deborah A DA; Bamshad, Michael J MJ; Hagin, David D; Luthers, Christopher R CR; Stinson, Jeffrey R JR; Gray, Jessica J; Lundgren, Ingrid I; Church, Joseph A JA; Butte, Manish J MJ; Jordan, Mike B MB; Aceves, Seema S SS; Schwartz, Daniella M DM; Milner, Joshua D JD; Schuval, Susan S; Skoda-Smith, Suzanne S; Cooper, Megan A MA; Starita, Lea M LM; Rawlings, David J DJ; Snow, Andrew L AL; James, Richard G RG
Publication Date: 2020-12-03

Variant appearance in text: GAA: 302A>C; Glu101Ala
PubMed Link: 33202260
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
  • mmc3.xlsx, sheet 1
  • mmc4.xlsx, sheet 1
View BVdb publication page



Frataxin and mitochondrial FeS cluster biogenesis.

The Journal Of Biological Chemistry
Stemmler, Timothy L TL; Lesuisse, Emmanuel E; Pain, Debkumar D; Dancis, Andrew A
Publication Date: 2010-08-27

Variant appearance in text: GAA: E101A
PubMed Link: 20522547
Variant Present in the following documents:
  • Main text
View BVdb publication page