Varaico: Literature-Extracted Genetic Variants

SARDH

620 papers

RefSeq Summary

This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylgl...

Pfam Domains

DAOaa 68–427UCSCFAD dependent oxidoreductase

FAO_Maa 430–485UCSCFAD dependent oxidoreductase central domain

GCV_Taa 488–803UCSCGCVT N-terminal domain

GCV_T_Caa 823–908UCSCGlycine cleavage T-protein C-terminal barrel domain

Gene Aliases

HGNC Name

sarcosine dehydrogenase

HGNC Previous Symbol

DMGDHL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001134707.2

p.G75delFs

c.224delC

Surrounding Variants

5 papers

NM_001134707.2

p.G75D

c.224G>A

1 paper

NM_001134707.2

p.S76S

c.228C>T

1 paper

NM_001134707.2

p.S76_L77insFs

c.228_229insA

1 paper

NM_001134707.2

p.G74insFs

c.221dupG

1 paper

NM_001134707.2

p.V69_G73delFs

c.206_218del13

1 paper

NM_001134707.2

p.G73_S76del4

c.217_227del12

1 paper

NM_001134707.2

p.G74insFs

c.221_222ins4

1 paper

NM_001134707.2

p.L77fs

c.229_230fs

1 paper

NM_001134707.2

p.G74R

c.220G>A

1 paper

NM_001134707.2

p.G73G

c.219T>C

1 paper

NM_001134707.2

p.G73V

c.218G>T

1 paper

NM_001134707.2

p.G73insFs

c.218_219insA