Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.I44V

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.I44V
c.130A>G
Surrounding Variants
1 paper
NM_003000.3
p.I44fs
c.130_131fs
4 papers
NM_003000.3
p.I44N
c.131T>A
1 paper
NM_003000.3
p.A43A
c.129C>A
1 paper
NM_003000.3
p.I44I
c.132C>T
1 paper
NM_003000.3
p.K40_A43delFs
c.120_127del8
3 papers
NM_003000.3
p.Y45_R46insCC
c.133_137ins6
1 paper
NM_003000.3
p.F42insFs
c.124_125dupTT
19 papers
NM_003000.3
p.A43P
c.127G>C
1 paper
NM_003000.3
p.A43T
c.127G>A
2 papers
NM_003000.3
p.F42delFs
c.126delA
3 papers
NM_003000.3
p.F42fs
c.124_125fs
1 paper
NM_003000.3
p.F42L
c.126T>G
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