Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.P197H

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.P197H
c.590C>A
Surrounding Variants
3 papers
NM_003000.3
p.P197L
c.590C>T
46 papers
NM_003000.3
p.P197R
c.590C>G
7 papers
NM_003000.3
p.P197S
c.589C>T
1 paper
NM_003000.3
p.S193_C196ins1
c.577_588dup12
4 papers
NM_003000.3
p.P197fs
c.589_590fs
2 papers
NM_003000.3
p.C196W
c.588C>G
1 paper
NM_003000.3
p.C196*
c.588C>A
6 papers
NM_003000.3
p.S198fs
c.592_593fs
1 paper
NM_003000.3
p.S198G
c.592A>G
5 papers
NM_003000.3
p.S198R
c.592A>C
17 papers
NM_003000.3
p.P197delFs
c.591delG
1 paper
NM_003000.3
p.C196F
c.587G>T
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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."