Varaico: Literature-Extracted Genetic Variants

Gene:LDHB
Variant:p.K127R

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
Selected Variant
1 paper
NM_002300.8
p.K127R
c.380A>G
Surrounding Variants
1 paper
NM_002300.8
p.V137I
c.409G>A
1 paper
NM_002300.8
p.R107P
c.320G>C
1 paper
NM_002300.8
p.R107Q
c.320G>A
1 paper
NM_002300.8
p.G104R
c.310G>C
1 paper
NM_002300.8
p.G104R
c.310G>A
3 papers
NM_002300.8
p.R100H
c.299G>A
1 paper
NM_002300.8
p.T87T
c.261T>C
1 paper
NM_002300.8
p.S85F
c.254C>T
1 paper
NM_002300.8
p.Y84_S85insC
c.250_254ins3
1 paper
NM_002300.8
p.Y84H
c.250T>C
2 papers
NM_002300.8
p.D83G
c.248A>G
1 paper
NM_002300.8
p.V141Splc
c.422-6T>G
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