Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R12B
Variant:p.N392N

PPP1R12B

80 papers

RefSeq Summary

Myosin phosphatase is a protein complex comprised of three subunits: a catalytic subunit (PP1c-delta, protein phosphatase 1, catalytic subunit delta), a large regulatory subunit (MYPT, myosin phosphat...

Pfam Domains

Ank_2aa 61–154UCSCAnkyrin repeats (3 copies)
Ank_4aa 62–111UCSCAnkyrin repeats (many copies)
Ank_4aa 62–111UCSCAnkyrin repeats (many copies)
Ankaa 123–155UCSCAnkyrin repeat
Ankaa 123–155UCSCAnkyrin repeat
Ank_2aa 194–281UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory subunit 12B

HGNC Previous Symbol

MYPT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002481.4
p.N392N
c.1176C>T
Surrounding Variants
1 paper
NM_002481.4
p.S391Y
c.1172C>A
1 paper
NM_002481.4
p.S395N
c.1184G>A
1 paper
NM_002481.4
p.A371T
c.1111G>A
1 paper
NM_002481.4
p.E429K
c.1285G>A
1 paper
NM_002481.4
p.H448D
c.1342C>G
1 paper
NM_002481.4
p.I461M
c.1383A>G
1 paper
NM_002481.4
p.R462_D463delins
c.1386_1387delinsAC
1 paper
NM_002481.4
p.D463H
c.1387G>C
1 paper
NM_002481.4
p.R476W
c.1426C>T
1 paper
NM_002481.4
p.L481V
c.1441C>G
1 paper
NM_002481.4
p.Q328*
c.982C>T
1 paper
NM_002481.4
p.D322H
c.964G>C
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