Varaico: Literature-Extracted Genetic Variants

ZC3H12A

103 papers

RefSeq Summary

ZC3H12A is an MCP1 (CCL2; MIM 158105)-induced protein that acts as a transcriptional activator and causes cell death of cardiomyocytes, possibly via induction of genes associated with apoptosis.[suppl...

Pfam Domains

UBA_6aa 48–89UCSCUBA-like domain

RNase_Zc3h12aaa 134–290UCSCZc3h12a-like Ribonuclease NYN domain

Regnase_1_Caa 549–593UCSCEndoribonuclease Regnase 1/ ZC3H12 C-terminal domain

Gene Aliases

HGNC Name

zinc finger CCCH-type containing 12A

HGNC Alias Symbols

FLJ23231; MCPIP1; Regnase-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_025079.3

p.V216V

c.648G>A

Surrounding Variants

1 paper

NM_025079.3

p.P212A

c.634C>G

1 paper

NM_025079.3

p.D225A

c.674A>C

1 paper

NM_025079.3

p.D225D

c.675C>T

1 paper

NM_025079.3

p.D226N

c.676G>A

1 paper

NM_025079.3

p.D226Y

c.676G>T

1 paper

NM_025079.3

p.D226A

c.677A>C

1 paper

NM_025079.3

p.F228_K231delFs

c.682_691del10

1 paper

NM_025079.3

p.F228fs

c.682_683fs

1 paper

NM_025079.3

p.E203_K204del1

c.608_610delAGA

1 paper

NM_025079.3

p.E203_K204del2

c.607_611del6

1 paper

NM_025079.3

p.A233T

c.697G>A

1 paper

NM_025079.3

p.A233G

c.698C>G