Varaico: Literature-Extracted Genetic Variants

Gene:DHFR
Variant:p.E45K

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
5 papers
NM_000791.4
p.E45K
c.133G>A
Surrounding Variants
1 paper
NM_000791.4
p.V44V
c.132A>G
1 paper
NM_000791.4
p.V44A
c.131T>C
1 paper
NM_000791.4
p.S43S
c.129A>G
3 papers
NM_000791.4
p.S42C
c.125C>G
1 paper
NM_000791.4
p.S42A
c.124T>G
1 paper
NM_000791.4
p.T40I
c.119C>T
1 paper
NM_000791.4
p.T39T
c.117C>A
1 paper
NM_000791.4
p.T39I
c.116C>T
1 paper
NM_000791.4
p.T39S
c.116C>G
1 paper
NM_000791.4
p.T39S
c.115A>T
1 paper
NM_000791.4
p.T39A
c.115A>G
2 papers
NM_000791.4
p.M38K
c.113T>A
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