Varaico: Literature-Extracted Genetic Variants

Gene:DHFR
Variant:p.N49fs

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.N49fs
c.145_146fs
Surrounding Variants
2 papers
NM_000791.4
p.N49Y
c.145A>T
2 papers
NM_000791.4
p.N49D
c.145A>G
1 paper
NM_000791.4
p.Q48Q
c.144G>A
1 paper
NM_000791.4
p.Q48_N49delFs
c.144_145delTC
2 papers
NM_000791.4
p.Q48K
c.142C>A
1 paper
NM_000791.4
p.L50L
c.150G>A
1 paper
NM_000791.4
p.V51L
c.151G>T
2 papers
NM_000791.4
p.K47E
c.139A>G
1 paper
NM_000791.4
p.I52V
c.154A>G
1 paper
NM_000791.4
p.I52I
c.156T>A
1 paper
NM_000791.4
p.M53T
c.158T>C
1 paper
NM_000791.4
p.M53K
c.158T>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."