Varaico: Literature-Extracted Genetic Variants

Gene:DHFR
Variant:p.G18G

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.G18G
c.54C>T
Surrounding Variants
1 paper
NM_000791.4
p.G18fs
c.52_53fs
1 paper
NM_000791.4
p.G18V
c.53G>T
1 paper
NM_000791.4
p.K19*
c.55A>T
1 paper
NM_000791.4
p.G18C
c.52G>T
1 paper
NM_000791.4
p.I17fs
c.49_50fs
2 papers
NM_000791.4
p.G18_K19del0
c.52_57del6
3 papers
NM_000791.4
p.N20_G21insFs
c.60_61ins19
2 papers
NM_000791.4
p.K19del1
c.55_57delCTT
1 paper
NM_000791.4
p.V11_N20delFs
c.31_59del29
1 paper
NM_000791.4
p.N20insFs
c.59_60ins19
3 papers
NM_000791.4
p.G21R
c.61G>C
3 papers
NM_000791.4
p.G21R
c.61G>A
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