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

1–12 of 94 variants

17 papers

NM_025079.3

p.D141N

c.421G>A

4 papers

NM_025079.3

p.P32L

c.95C>T

3 papers

NM_025079.3

p.R33S

c.99G>C

3 papers

NM_025079.3

p.R33S

c.99G>T

3 papers

NM_025079.3

p.P100L

c.299C>T

2 papers

NM_025079.3

p.I140V

c.418A>G

2 papers

NM_025079.3

p.D141A

c.422A>C

2 papers

NM_025079.3

p.V191M

c.571G>A

2 papers

NM_025079.3

p.D437N

c.1309G>A

2 papers

NM_025079.3

p.D437Y

c.1309G>T

2 papers

NM_025079.3

p.S438L

c.1313C>T

2 papers

NM_025079.3

p.R512*

c.1534C>T