Varaico: Literature-Extracted Genetic Variants

Gene:MTAP
Variant:p.C131F

MTAP

137 papers

RefSeq Summary

This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage pathway of both adenine and methionine. The encoded enzyme is deficient in many cancers. Mu...

Pfam Domains

PNP_UDP_1aa 11–256UCSCPhosphorylase superfamily

Gene Aliases

HGNC Name

methylthioadenosine phosphorylase

HGNC Alias Symbols

MSAP; c86fus

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002451.4
p.C131F
c.392G>T
Surrounding Variants
1 paper
NM_002451.4
p.S128R
c.384T>A
1 paper
NM_002451.4
p.S128R
c.384T>G
1 paper
NM_002451.4
p.S128R
c.382A>C
2 papers
NM_002451.4
p.C136R
c.406T>C
1 paper
NM_002451.4
p.M140V
c.418A>G
1 paper
NM_002451.4
p.T148M
c.443C>T
1 paper
NM_002451.4
p.E150_V151Splc
c.450+7A>C
1 paper
NM_002451.4
p.R116Splc
c.348-5165A>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."