Varaico: Literature-Extracted Genetic Variants

Gene:MTAP

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
1–12 of 88 variants
15 papers
NM_002451.4
p.V56I
c.166G>A
3 papers
NM_002451.4
p.D220A
c.659A>C
2 papers
NM_002451.4
p.D106N
c.316G>A
2 papers
NM_002451.4
p.C136R
c.406T>C
2 papers
NM_002451.4
p.C163Y
c.488G>A
2 papers
NM_002451.4
p.R180W
c.538C>T
2 papers
NM_002451.4
p.P200A
c.598C>G
2 papers
NM_002451.4
p.C223Y
c.668G>A
2 papers
NM_002451.4
p.W224*
c.671G>A
2 papers
NM_002451.4
p.W224*
c.672G>A
2 papers
NM_002451.4
p.N272K
c.816T>A
2 papers
NM_002451.4
p.N272K
c.816T>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."