Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.K78M

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.K78M
c.233A>T
Surrounding Variants
5 papers
NM_003000.3
p.K78R
c.233A>G
5 papers
NM_003000.3
p.K78N
c.234G>T
5 papers
NM_003000.3
p.K78N
c.234G>C
1 paper
NM_003000.3
p.K78delFs
c.233delT
2 papers
NM_003000.3
p.K78*
c.232A>T
2 papers
NM_003000.3
p.K78E
c.232A>G
1 paper
NM_003000.3
p.I77M
c.231C>G
1 paper
NM_003000.3
p.I77fs
c.229_230fs
1 paper
NM_003000.3
p.I77delFs
c.229_230delAT
2 papers
NM_003000.3
p.I79F
c.235A>T
1 paper
NM_003000.3
p.I79V
c.235A>G
2 papers
NM_003000.3
p.I77insFs
c.229dupA
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