Varaico: Literature-Extracted Genetic Variants

Gene:DHFR
Variant:p.L68F

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.L68F
c.204A>C
Surrounding Variants
1 paper
NM_000791.4
p.L68insFs
c.203_204insT
2 papers
NM_000791.4
p.R66_L68del3
c.196_203del9
1 paper
NM_000791.4
p.L68V
c.202T>G
1 paper
NM_000791.4
p.P67P
c.201T>A
1 paper
NM_000791.4
p.G70S
c.208G>A
1 paper
NM_000791.4
p.P67L
c.200C>T
2 papers
NM_000791.4
p.P67A
c.199C>G
1 paper
NM_000791.4
p.P67T
c.199C>A
2 papers
NM_000791.4
p.G70delFs
c.208delC
1 paper
NM_000791.4
p.R71*
c.211A>T
1 paper
NM_000791.4
p.R71G
c.211A>G
2 papers
NM_000791.4
p.R71T
c.212G>C
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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."