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.D244A

c.731A>C

Surrounding Variants

1 paper

NM_025079.3

p.D244N

c.730G>A

1 paper

NM_025079.3

p.V241F

c.721G>T

1 paper

NM_025079.3

p.V240M

c.718G>A

1 paper

NM_025079.3

p.G238E

c.713G>A

1 paper

NM_025079.3

p.Y234*

c.702C>A

1 paper

NM_025079.3

p.Q254K

c.760C>A

1 paper

NM_025079.3

p.Y234*

c.702C>G

1 paper

NM_025079.3

p.A233G

c.698C>G

1 paper

NM_025079.3

p.A233T

c.697G>A

1 paper

NM_025079.3

p.I260F

c.778A>T

1 paper

NM_025079.3

p.I260I

c.780C>T

1 paper

NM_025079.3

p.F228fs

c.682_683fs