Varaico: Literature-Extracted Genetic Variants

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

2 papers

NM_003000.3

p.R230delFs

c.688delG

Surrounding Variants

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

1 paper

NM_003000.3

p.E229_R230del1

c.686_688delGCT

45 papers

NM_003000.3

p.R230C

c.688C>T

1 paper

NM_003000.3

p.R230R

c.690C>T

9 papers

NM_003000.3

p.R230G

c.688C>G

2 papers

NM_003000.3

p.E229_R230insFs

c.687_688insG

1 paper

NM_003000.3

p.R230fs

c.688_689fs

1 paper

NM_003000.3

p.R230S

c.688C>A

2 papers

NM_003000.3

p.R230fs

c.688_689fs