Varaico: Literature-Extracted Genetic Variants

Gene:MAF1
Variant:p.S60A

MAF1

22 papers

RefSeq Summary

This gene encodes a protein that is similar to Maf1, a Saccharomyces cerevisiae protein highly conserved in eukaryotic cells. Yeast Maf1 is a negative effector of RNA polymerase III (Pol III). It resp...

Pfam Domains

Maf1aa 25–202UCSCMaf1 regulator

Gene Aliases

HGNC Name

MAF1 negative regulator of RNA polymerase III

HGNC Alias Symbol

DKFZp586G1123

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032272.5
p.S60A
c.178T>G
Surrounding Variants
1 paper
NM_032272.5
p.T64A
c.190A>G
1 paper
NM_032272.5
p.D40N
c.118G>A
1 paper
NM_032272.5
p.E81G
c.242A>G
1 paper
NM_032272.5
p.G82A
c.245G>C
1 paper
NM_032272.5
p.P83L
c.248C>T
1 paper
NM_032272.5
p.S103F
c.308C>T
1 paper
NM_032272.5
p.R120R
c.358C>A
1 paper
NM_032272.5
p.L124delFs
c.372delT
1 paper
NM_032272.5
p.V154_D155delFs
c.462_463delGG
1 paper
NM_032272.5
p.C163Y
c.488G>A
1 paper
NM_032272.5
p.Y168fs
c.502_503fs
1 paper
NM_032272.5
p.Y168_N169delFs
c.503_507del5
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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."