Varaico: Literature-Extracted Genetic Variants

Gene:DHFR
Variant:p.I152L

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.I152L
c.454A>C
Surrounding Variants
13 papers
NM_000791.4
p.D153V
c.458A>T
1 paper
NM_000791.4
p.P150T
c.448C>A
1 paper
NM_000791.4
p.L154_E155insFs
c.462_463insT
1 paper
NM_000791.4
p.E155Q
c.463G>C
1 paper
NM_000791.4
p.E155V
c.464A>T
1 paper
NM_000791.4
p.K156E
c.466A>G
1 paper
NM_000791.4
p.T147M
c.440C>T
1 paper
NM_000791.4
p.K156N
c.468A>C
1 paper
NM_000791.4
p.Y157H
c.469T>C
1 paper
NM_000791.4
p.T147S
c.439A>T
1 paper
NM_000791.4
p.D146V
c.437A>T
40 papers
NM_000791.4
p.D146G
c.437A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."