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

2 papers

NM_025079.3

p.D437Y

c.1309G>T

Surrounding Variants

2 papers

NM_025079.3

p.D437N

c.1309G>A

2 papers

NM_025079.3

p.S438L

c.1313C>T

1 paper

NM_025079.3

p.G439D

c.1316G>A

1 paper

NM_025079.3

p.G439A

c.1316G>C

1 paper

NM_025079.3

p.I440L

c.1318A>C

1 paper

NM_025079.3

p.S442P

c.1324T>C

1 paper

NM_025079.3

p.S442Y

c.1325C>A

1 paper

NM_025079.3

p.S445R

c.1333A>C

1 paper

NM_025079.3

p.S445R

c.1335C>A

1 paper

NM_025079.3

p.S445R

c.1335C>G

1 paper

NM_025079.3

p.L428R

c.1283T>G

1 paper

NM_025079.3

p.S427*

c.1280C>A