Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.L130delFs

SDHB

1,345 papers

RefSeq Summary

This tumor suppressor gene encodes the iron-sulfur protein subunit of the succinate dehydrogenase (SDH) enzyme complex which plays a critical role in mitochondria. The SDH enzyme complex is composed o...

Pfam Domains

Fer2_3aa 41–144UCSC2Fe-2S iron-sulfur cluster binding domain
Fer4_17aa 167–240UCSC4Fe-4S dicluster domain

Gene Aliases

HGNC Name

succinate dehydrogenase complex iron sulfur subunit B

HGNC Previous Symbols

SDH1; SDH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003000.3
p.L130delFs
c.388_389delAG
Surrounding Variants
1 paper
NM_003000.3
p.P129insFs
c.386_387dupCT
1 paper
NM_003000.3
p.V124_L130delins
c.371_390delinsGG
1 paper
NM_003000.3
p.L130insFs
c.388dupC
1 paper
NM_003000.3
p.L130P
c.389T>C
3 papers
NM_003000.3
p.P131fs
c.391_392fs
2 papers
NM_003000.3
p.L130F
c.388C>T
15 papers
NM_003000.3
p.P131R
c.392C>G
1 paper
NM_003000.3
p.K126_P131delFs
c.376_391del16
2 papers
NM_003000.3
p.P131fs
c.391_392fs
15 papers
NM_003000.3
p.P131delFs
c.392delG
3 papers
NM_003000.3
p.P129L
c.386C>T
2 papers
NM_003000.3
p.H132Y
c.394C>T
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