Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.R230R

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.R230R
c.690C>T
Surrounding Variants
1 paper
NM_003000.3
p.R230fs
c.688_689fs
14 papers
NM_003000.3
p.R230L
c.689G>T
2 papers
NM_003000.3
p.R230insFs
c.688dupC
1 paper
NM_003000.3
p.R230P
c.689G>C
74 papers
NM_003000.3
p.R230H
c.689G>A
2 papers
NM_003000.3
p.R230delFs
c.688delG
1 paper
NM_003000.3
p.E229_R230del1
c.686_688delGCT
1 paper
NM_003000.3
p.L231L
c.691C>T
1 paper
NM_003000.3
p.E229_R230del2
c.685_689del6
1 paper
NM_003000.3
p.L231Q
c.692T>A
45 papers
NM_003000.3
p.R230C
c.688C>T
9 papers
NM_003000.3
p.R230G
c.688C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."