Varaico: Literature-Extracted Genetic Variants

Gene:DHFR
Variant:p.T57P

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.T57P
c.169A>C
Surrounding Variants
1 paper
NM_000791.4
p.T57S
c.169A>T
1 paper
NM_000791.4
p.T57A
c.169A>G
1 paper
NM_000791.4
p.T57S
c.170C>G
2 papers
NM_000791.4
p.K55_T57del0
c.163_171del9
2 papers
NM_000791.4
p.I52_T57del6
c.154_170del18
1 paper
NM_000791.4
p.K56E
c.166A>G
1 paper
NM_000791.4
p.K55R
c.164A>G
1 paper
NM_000791.4
p.F59L
c.175T>C
2 papers
NM_000791.4
p.G54_K55ins3
c.162_163ins9
2 papers
NM_000791.4
p.G54G
c.162T>C
1 paper
NM_000791.4
p.G54A
c.161G>C
1 paper
NM_000791.4
p.F59L
c.177C>G
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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."