Varaico: Literature-Extracted Genetic Variants

Gene:DHFR

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
1–12 of 288 variants
40 papers
NM_000791.4
p.D146G
c.437A>G
13 papers
NM_000791.4
p.D153V
c.458A>T
12 papers
NM_000791.4
p.H128R
c.383A>G
11 papers
NM_000791.4
p.K185E
c.553A>G
9 papers
NM_000791.4
p.L28R
c.83T>G
9 papers
NM_000791.4
p.L80F
c.238C>T
5 papers
NM_000791.4
p.S12F
c.35C>T
5 papers
NM_000791.4
p.E45K
c.133G>A
5 papers
NM_000791.4
p.Q141K
c.421C>A
4 papers
NM_000791.4
p.P26Q
c.77C>A
4 papers
NM_000791.4
p.L28F
c.82C>T
3 papers
NM_000791.4
p.M1insFs
c.1dupA
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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."