Varaico: Literature-Extracted Genetic Variants

PPP1R16B

40 papers

RefSeq Summary

The protein encoded by this gene is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting domain, and a carboxy-terminal CAAX box domain. Synthesis of the encoded ...

Pfam Domains

Ank_2aa 72–164UCSCAnkyrin repeats (3 copies)

Ankaa 228–260UCSCAnkyrin repeat

Ankaa 261–293UCSCAnkyrin repeat

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory subunit 16B

HGNC Alias Symbols

KIAA0823; TIMAP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_015568.4

p.S337A

c.1009T>G

Surrounding Variants

1 paper

NM_015568.4

p.R342H

c.1025G>A

2 papers

NM_015568.4

p.S331A

c.991T>G

1 paper

NM_015568.4

p.S330A

c.988T>G

1 paper

NM_015568.4

p.S324A

c.970T>G

1 paper

NM_015568.4

p.L314I

c.940C>A

1 paper

NM_015568.4

p.T355del1

c.1063_1064delACC

1 paper

NM_015568.4

p.S372N

c.1115G>A

1 paper

NM_015568.4

p.R378Q

c.1133G>A

1 paper

NM_015568.4

p.S287I

c.860G>T

1 paper

NM_015568.4

p.E264*

c.790G>T

1 paper

NM_015568.4

p.G252A

c.755G>C

1 paper

NM_015568.4

p.D250D

c.750C>T