Varaico: Literature-Extracted Genetic Variants

Gene:ACP1
Variant:p.V74I

ACP1

49 papers

RefSeq Summary

The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine p...

Pfam Domains

LMWPcaa 8–158UCSCLow molecular weight phosphotyrosine protein phosphatase

Gene Aliases

HGNC Name

acid phosphatase 1

HGNC Alias Symbols

HAAP; LMW-PTP; LMWPTP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004300.4
p.V74I
c.220G>A
Surrounding Variants
1 paper
NM_004300.4
p.M71L
c.211A>C
1 paper
NM_004300.4
p.M71L
c.211A>T
1 paper
NM_004300.4
p.H67N
c.199C>A
1 paper
NM_004300.4
p.Q61*
c.181C>T
1 paper
NM_004300.4
p.D57delFs
c.171delC
1 paper
NM_004300.4
p.P56S
c.166C>T
1 paper
NM_004300.4
p.N54I
c.161A>T
1 paper
NM_004300.4
p.Q77_I78Splc
c.231+53C>T
1 paper
NM_004300.4
p.A46T
c.136G>A
1 paper
NM_004300.4
p.D43D
c.129C>T
1 paper
NM_004300.4
p.S37*
c.110C>A
1 paper
NM_004300.4
p.S37*
c.110C>G
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