Varaico: Literature-Extracted Genetic Variants

Gene:DHFR
Variant:p.K174*

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.K174*
c.520A>T
Surrounding Variants
1 paper
NM_000791.4
p.E173D
c.519G>T
1 paper
NM_000791.4
p.E173D
c.519G>C
1 paper
NM_000791.4
p.E173E
c.519G>A
1 paper
NM_000791.4
p.E173K
c.517G>A
2 papers
NM_000791.4
p.Y163_Q171del9
c.487_512del27
1 paper
NM_000791.4
p.K177K
c.531G>A
2 papers
NM_000791.4
p.Y178_K179ins9
c.532_536ins27
1 paper
NM_000791.4
p.V170I
c.508G>A
1 paper
NM_000791.4
p.Y178C
c.533A>G
1 paper
NM_000791.4
p.K179T
c.536A>C
2 papers
NM_000791.4
p.S168F
c.503C>T
1 paper
NM_000791.4
p.S168Y
c.503C>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."