Varaico: Literature-Extracted Genetic Variants

Gene:DHFR
Variant:p.L5insFs

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.L5insFs
c.14_15insA
Surrounding Variants
3 papers
NM_000791.4
p.L5Q
c.14T>A
2 papers
NM_000791.4
p.S4S
c.12G>C
1 paper
NM_000791.4
p.N6Y
c.16A>T
1 paper
NM_000791.4
p.N6D
c.16A>G
2 papers
NM_000791.4
p.N6H
c.16A>C
1 paper
NM_000791.4
p.N6I
c.17A>T
1 paper
NM_000791.4
p.N6T
c.17A>C
1 paper
NM_000791.4
p.S4ins2
c.10_11ins6
1 paper
NM_000791.4
p.N6K
c.18C>G
1 paper
NM_000791.4
p.C7S
c.19T>A
1 paper
NM_000791.4
p.C7S
c.20G>C
1 paper
NM_000791.4
p.V2insFs
c.5_6insG
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