Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.L234L

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.L234L
c.700C>T
Surrounding Variants
1 paper
NM_003000.3
p.K233del1
c.697_698delCTT
2 papers
NM_003000.3
p.L234P
c.701T>C
1 paper
NM_003000.3
p.L234Q
c.701T>A
1 paper
NM_003000.3
p.K233_L234delFs
c.697_700del4
1 paper
NM_003000.3
p.K233K
c.699G>A
2 papers
NM_003000.3
p.Q235*
c.703C>T
5 papers
NM_003000.3
p.K233*
c.697A>T
2 papers
NM_003000.3
p.Q235R
c.704A>G
1 paper
NM_003000.3
p.Q235H
c.705G>T
1 paper
NM_003000.3
p.A232V
c.695C>T
3 papers
NM_003000.3
p.D236N
c.706G>A
1 paper
NM_003000.3
p.A232T
c.694G>A
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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."