Varaico: Literature-Extracted Genetic Variants

Gene:PPM1D
Variant:p.M547delFs

PPM1D

595 papers

RefSeq Summary

The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expressio...

Pfam Domains

PP2Caa 66–368UCSCProtein phosphatase 2C

Gene Aliases

HGNC Name

protein phosphatase, Mg2+/Mn2+ dependent 1D

HGNC Alias Symbols

Wip1; PP2C-DELTA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003620.4
p.M547delFs
c.1639_1640delAT
Surrounding Variants
1 paper
NM_003620.4
p.M547delFs
c.1639delA
1 paper
NM_003620.4
p.L546P
c.1637T>C
8 papers
NM_003620.4
p.L546fs
c.1636_1637fs
1 paper
NM_003620.4
p.L546insFs
c.1637_1638dupTG
4 papers
NM_003620.4
p.L546delFs
c.1637delT
2 papers
NM_003620.4
p.L546fs
c.1636_1637fs
2 papers
NM_003620.4
p.K548*
c.1642A>T
1 paper
NM_003620.4
p.G544G
c.1632C>T
1 paper
NM_003620.4
p.K549insFs
c.1646_1647insA
1 paper
NM_003620.4
p.K549fs
c.1645_1646fs
5 papers
NM_003620.4
p.K549*
c.1645A>T
4 papers
NM_003620.4
p.G544insFs
c.1632dupC
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