Varaico: Literature-Extracted Genetic Variants

Gene:DHFR
Variant:p.I8T

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.I8T
c.23T>C
Surrounding Variants
1 paper
NM_000791.4
p.I8I
c.24C>T
1 paper
NM_000791.4
p.V9F
c.25G>T
1 paper
NM_000791.4
p.V9D
c.26T>A
1 paper
NM_000791.4
p.C7S
c.20G>C
1 paper
NM_000791.4
p.C7S
c.19T>A
1 paper
NM_000791.4
p.V9V
c.27C>G
1 paper
NM_000791.4
p.A10S
c.28G>T
1 paper
NM_000791.4
p.A10_V11ins6
c.28_32ins18
1 paper
NM_000791.4
p.N6K
c.18C>G
1 paper
NM_000791.4
p.A10V
c.29C>T
1 paper
NM_000791.4
p.N6I
c.17A>T
1 paper
NM_000791.4
p.N6T
c.17A>C
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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."