Varaico: Literature-Extracted Genetic Variants

Gene:DHFR
Variant:p.L28V

DHFR

423 papers

RefSeq Summary

Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, and certain amino acids. While the function...

Pfam Domains

DHFR_1aa 4–126UCSCDihydrofolate reductase

Gene Aliases

HGNC Name

dihydrofolate reductase

HGNC Alias Symbol

DHFR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000791.4
p.L28V
c.82C>G
Surrounding Variants
4 papers
NM_000791.4
p.L28F
c.82C>T
1 paper
NM_000791.4
p.L28I
c.82C>A
9 papers
NM_000791.4
p.L28R
c.83T>G
1 paper
NM_000791.4
p.L28H
c.83T>A
1 paper
NM_000791.4
p.G18_P27delFs
c.53_80del28
1 paper
NM_000791.4
p.P27P
c.81G>A
2 papers
NM_000791.4
p.N20_P26delFs
c.60_78del19
1 paper
NM_000791.4
p.P27S
c.79C>T
1 paper
NM_000791.4
p.R29G
c.85A>G
1 paper
NM_000791.4
p.R29K
c.86G>A
1 paper
NM_000791.4
p.P26L
c.77C>T
4 papers
NM_000791.4
p.P26Q
c.77C>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."