Varaico: Literature-Extracted Genetic Variants

Gene:LDHB

LDHB

78 papers

RefSeq Summary

This gene encodes the B subunit of lactate dehydrogenase enzyme, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+ in a post-glycolysis proc...

Pfam Domains

Ldh_1_Naa 22–161UCSClactate/malate dehydrogenase, NAD binding domain
Ldh_1_Caa 164–334UCSClactate/malate dehydrogenase, alpha/beta C-terminal domain

Gene Aliases

HGNC Name

lactate dehydrogenase B

Papers
RefSeq ID
Protein change
DNA change
1–12 of 104 variants
5 papers
NM_002300.8
p.K7E
c.19A>G
5 papers
NM_002300.8
p.R172H
c.515G>A
4 papers
NM_002300.8
p.A35E
c.104C>A
3 papers
NM_002300.8
p.R100H
c.299G>A
3 papers
NM_002300.8
p.W325R
c.973T>C
3 papers
NM_002300.8
p.W325R
c.973T>A
2 papers
NM_002300.8
p.V19G
c.56T>G
2 papers
NM_002300.8
p.D83G
c.248A>G
2 papers
NM_002300.8
p.R158C
c.472C>T
2 papers
NM_002300.8
p.R299Q
c.896G>A
1 paper
NM_002300.8
p.M1I
c.3G>T
1 paper
NM_002300.8
p.M1I
c.3G>C
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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."