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

1 paper

NM_003000.3

p.L180_D181Splc

c.540+1G>T

Surrounding Variants

8 papers

NM_003000.3

p.L180_D181Splc

c.540+1G>A

2 papers

NM_003000.3

p.L180_D181Splc

c.540+2T>C

1 paper

NM_003000.3

p.L180_D181Splc

c.540+2T>A

1 paper

NM_003000.3

p.L180delFs

c.540delC

2 papers

NM_003000.3

p.L180fs

c.538_539fs

1 paper

NM_003000.3

p.L180L

c.540G>C

5 papers

NM_003000.3

p.L180L

c.540G>A

1 paper

NM_003000.3

p.L180L

c.538C>T

3 papers

NM_003000.3

p.K179insFs

c.537dupA

1 paper

NM_003000.3

p.L180M

c.538C>A

1 paper

NM_003000.3

p.L180_D181Splc

c.540+4A>G

1 paper

NM_003000.3

p.L180_D181Splc

c.540+5T>C