Varaico: Literature-Extracted Genetic Variants

Gene:LDHAL6A
Variant:p.R171C

LDHAL6A

17 papers

Pfam Domains

Ldh_1_Naa 21–160UCSClactate/malate dehydrogenase, NAD binding domain
Ldh_1_Caa 163–331UCSClactate/malate dehydrogenase, alpha/beta C-terminal domain

Gene Aliases

HGNC Name

lactate dehydrogenase A like 6A

HGNC Alias Symbols

MGC23940; LDH6A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144972.5
p.R171C
c.511C>T
Surrounding Variants
1 paper
NM_144972.5
p.R171H
c.512G>A
2 papers
NM_144972.5
p.R169S
c.505C>A
1 paper
NM_144972.5
p.G194D
c.581G>A
1 paper
NM_144972.5
p.V198Splc
c.592+1G>A
1 paper
NM_144972.5
p.S202delFs
c.605delG
1 paper
NM_144972.5
p.S202fs
c.604_605fs
1 paper
NM_144972.5
p.K212N
c.636G>C
1 paper
NM_144972.5
p.K212N
c.636G>T
1 paper
NM_144972.5
p.D223G
c.668A>G
1 paper
NM_144972.5
p.W227*
c.680G>A
1 paper
NM_144972.5
p.W227*
c.681G>A
1 paper
NM_144972.5
p.Y239*
c.717T>A
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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."