Varaico: Literature-Extracted Genetic Variants

Gene:MTAP
Variant:p.A94V

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.A94V
c.281C>T
Surrounding Variants
1 paper
NM_002451.4
p.V89A
c.266T>C
1 paper
NM_002451.4
p.C86_T87insA
c.256_260ins3
1 paper
NM_002451.4
p.Q103*
c.307C>T
1 paper
NM_002451.4
p.G105S
c.313G>A
2 papers
NM_002451.4
p.D106N
c.316G>A
1 paper
NM_002451.4
p.I107L
c.319A>C
1 paper
NM_002451.4
p.I107T
c.320T>C
1 paper
NM_002451.4
p.I109V
c.325A>G
1 paper
NM_002451.4
p.W79delFs
c.236delG
1 paper
NM_002451.4
p.I78M
c.234C>G
1 paper
NM_002451.4
p.I110T
c.329T>C
1 paper
NM_002451.4
p.N77I
c.230A>T
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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."