Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.P49S

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.P49S
c.145C>T
Surrounding Variants
2 papers
NM_003000.3
p.D48insFs
c.143_144dupAC
1 paper
NM_003000.3
p.D48fs
c.142_143fs
30 papers
NM_003000.3
p.D48V
c.143A>T
2 papers
NM_003000.3
p.P49P
c.147A>T
2 papers
NM_003000.3
p.P49fs
c.145_146fs
1 paper
NM_003000.3
p.D48delFs
c.142delC
2 papers
NM_003000.3
p.D50Y
c.148G>T
1 paper
NM_003000.3
p.P49insFs
c.147dupA
1 paper
NM_003000.3
p.D50H
c.148G>C
1 paper
NM_003000.3
p.D48fs
c.142_143fs
19 papers
NM_003000.3
p.W47*
c.141G>A
1 paper
NM_003000.3
p.D50V
c.149A>T
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