Varaico: Literature-Extracted Genetic Variants

Gene:DDAH1
Variant:p.K199_I200Splc

DDAH1

52 papers

RefSeq Summary

This gene belongs to the dimethylarginine dimethylaminohydrolase (DDAH) gene family. The encoded enzyme plays a role in nitric oxide generation by regulating cellular concentrations of methylarginines...

Pfam Domains

DDAH_eukaraa 23–278UCSCN,N dimethylarginine dimethylhydrolase, eukaryotic

Gene Aliases

HGNC Name

dimethylarginine dimethylaminohydrolase 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012137.4
p.K199_I200Splc
c.597+4916T>C
Surrounding Variants
1 paper
NM_012137.4
p.A197A
c.591C>T
1 paper
NM_012137.4
p.I188V
c.562A>G
1 paper
NM_012137.4
p.A187A
c.561A>G
1 paper
NM_012137.4
p.P183T
c.547C>A
1 paper
NM_012137.4
p.P167A
c.499C>G
1 paper
NM_012137.4
p.S164F
c.491C>T
1 paper
NM_012137.4
p.D160D
c.480C>T
1 paper
NM_012137.4
p.K159_D160Splc
c.478-7C>T
3 papers
NM_012137.4
p.G150A
c.449G>C
1 paper
NM_012137.4
p.N147T
c.440A>C
1 paper
NM_012137.4
p.G135Splc
c.404-33C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."