Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.L7fs

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
3 papers
NM_003000.3
p.L7fs
c.19_20fs
Surrounding Variants
2 papers
NM_003000.3
p.L7L
c.21C>T
1 paper
NM_003000.3
p.S8insFs
c.22_23insC
1 paper
NM_003000.3
p.A6insFs
c.17_18dupCC
1 paper
NM_003000.3
p.S8P
c.22T>C
1 paper
NM_003000.3
p.L7P
c.20T>C
1 paper
NM_003000.3
p.L7Fs
c.20delinsCCFs
1 paper
NM_003000.3
p.L7H
c.20T>A
3 papers
NM_003000.3
p.L7delFs
c.21delG
1 paper
NM_003000.3
p.L7_S8Fs
c.20_22delinsCFs
1 paper
NM_003000.3
p.A6_L7delFs
c.18_21del4
1 paper
NM_003000.3
p.A3_L7delFs
c.9_19del11
1 paper
NM_003000.3
p.S8fs
c.22_23fs
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