Varaico: Literature-Extracted Genetic Variants

Gene:DPEP1
Variant:p.S240S

DPEP1

202 papers

RefSeq Summary

The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leuk...

Pfam Domains

Peptidase_M19aa 25–352UCSCMembrane dipeptidase (Peptidase family M19)

Gene Aliases

HGNC Name

dipeptidase 1

HGNC Previous Name

dipeptidase 1 (renal)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001389466.1
p.S240S
c.720C>T
Surrounding Variants
2 papers
NM_001389466.1
p.S237A
c.709T>G
1 paper
NM_001389466.1
p.S236A
c.706T>G
1 paper
NM_001389466.1
p.H235R
c.704A>G
2 papers
NM_001389466.1
p.R246C
c.736C>T
2 papers
NM_001389466.1
p.R246H
c.737G>A
1 paper
NM_001389466.1
p.R246L
c.737G>T
1 paper
NM_001389466.1
p.D250Y
c.748G>T
1 paper
NM_001389466.1
p.V231A
c.692T>C
1 paper
NM_001389466.1
p.D251A
c.752A>C
1 paper
NM_001389466.1
p.D251E
c.753C>A
1 paper
NM_001389466.1
p.D251E
c.753C>G
1 paper
NM_001389466.1
p.A222V
c.665C>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."