Varaico: Literature-Extracted Genetic Variants

Gene:DHFR
Variant:p.M53I

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.M53I
c.159G>T
Surrounding Variants
1 paper
NM_000791.4
p.M53I
c.159G>C
1 paper
NM_000791.4
p.M53I
c.159G>A
1 paper
NM_000791.4
p.M53T
c.158T>C
1 paper
NM_000791.4
p.M53K
c.158T>A
1 paper
NM_000791.4
p.G54A
c.161G>C
2 papers
NM_000791.4
p.G54_K55ins3
c.162_163ins9
2 papers
NM_000791.4
p.G54G
c.162T>C
1 paper
NM_000791.4
p.I52I
c.156T>A
1 paper
NM_000791.4
p.K55R
c.164A>G
1 paper
NM_000791.4
p.I52V
c.154A>G
1 paper
NM_000791.4
p.K56E
c.166A>G
1 paper
NM_000791.4
p.V51L
c.151G>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."