Varaico: Literature-Extracted Genetic Variants

Gene:MTAP
Variant:p.A191fs

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.A191fs
c.571_572fs
Surrounding Variants
1 paper
NM_002451.4
p.D192_V193insCA
c.574_578ins6
1 paper
NM_002451.4
p.I194V
c.580A>G
1 paper
NM_002451.4
p.R187R
c.561C>T
2 papers
NM_002451.4
p.P200A
c.598C>G
1 paper
NM_002451.4
p.E201Q
c.601G>C
1 paper
NM_002451.4
p.R180Q
c.539G>A
2 papers
NM_002451.4
p.R180W
c.538C>T
1 paper
NM_002451.4
p.A205P
c.613G>C
1 paper
NM_002451.4
p.K206R
c.617A>G
1 paper
NM_002451.4
p.P175L
c.524C>T
1 paper
NM_002451.4
p.A208delFs
c.622delG
1 paper
NM_002451.4
p.Y212H
c.634T>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."