Varaico: Literature-Extracted Genetic Variants

Gene:MTAP
Variant:p.W79delFs

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.W79delFs
c.236delG
Surrounding Variants
1 paper
NM_002451.4
p.I78M
c.234C>G
1 paper
NM_002451.4
p.N77I
c.230A>T
1 paper
NM_002451.4
p.A76V
c.227C>T
1 paper
NM_002451.4
p.C86_T87insA
c.256_260ins3
1 paper
NM_002451.4
p.V89A
c.266T>C
1 paper
NM_002451.4
p.M68T
c.203T>C
1 paper
NM_002451.4
p.M68_V72delFs
c.204_214del11
1 paper
NM_002451.4
p.Q64_H65insFs
c.192_193insCA
1 paper
NM_002451.4
p.Q64fs
c.190_191fs
1 paper
NM_002451.4
p.A94V
c.281C>T
1 paper
NM_002451.4
p.H61L
c.182A>T
1 paper
NM_002451.4
p.Q103*
c.307C>T
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