Varaico: Literature-Extracted Genetic Variants

Gene:DHFR
Variant:p.H128R

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
12 papers
NM_000791.4
p.H128R
c.383A>G
Surrounding Variants
1 paper
NM_000791.4
p.H128Q
c.384C>G
1 paper
NM_000791.4
p.P129L
c.386C>T
2 papers
NM_000791.4
p.P129Q
c.386C>A
1 paper
NM_000791.4
p.H128del1
c.382_383delGTG
1 paper
NM_000791.4
p.P129P
c.387A>T
1 paper
NM_000791.4
p.G130del1
c.388_389delGCC
1 paper
NM_000791.4
p.K133R
c.398A>G
1 paper
NM_000791.4
p.F135L
c.405T>A
1 paper
NM_000791.4
p.V136A
c.407T>C
1 paper
NM_000791.4
p.T137A
c.409A>G
2 papers
NM_000791.4
p.T137R
c.410C>G
1 paper
NM_000791.4
p.R138K
c.413G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."