Varaico: Literature-Extracted Genetic Variants

Gene:DHFR
Variant:p.P24S

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.P24S
c.70C>T
Surrounding Variants
1 paper
NM_000791.4
p.L23L
c.69G>C
2 papers
NM_000791.4
p.D22_L23del1
c.66_68delAGG
1 paper
NM_000791.4
p.L23Q
c.68T>A
1 paper
NM_000791.4
p.P24fs
c.70_71fs
2 papers
NM_000791.4
p.W25R
c.73T>C
1 paper
NM_000791.4
p.W25R
c.73T>A
1 paper
NM_000791.4
p.I17_P24delFs
c.51_72del22
1 paper
NM_000791.4
p.D22del1
c.64_65delGTC
1 paper
NM_000791.4
p.W25C
c.75G>T
1 paper
NM_000791.4
p.P24_W25delFs
c.70_74del5
1 paper
NM_000791.4
p.D22V
c.65A>T
1 paper
NM_000791.4
p.D22N
c.64G>A
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