Varaico: Literature-Extracted Genetic Variants

ZC3H12B

38 papers

RefSeq Summary

The protein encoded by this gene belongs to a family of CCCH-type zinc finger proteins that are involved in the proinflammatory activation of macrophages. The exact function of this family member is u...

Pfam Domains

UBA_6aa 108–149UCSCUBA-like domain

RNase_Zc3h12aaa 189–345UCSCZc3h12a-like Ribonuclease NYN domain

Regnase_1_Caa 789–831UCSCEndoribonuclease Regnase 1/ ZC3H12 C-terminal domain

Gene Aliases

HGNC Name

zinc finger CCCH-type containing 12B

HGNC Previous Symbol

CXorf32

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001010888.4

p.T266T

c.798A>T

Surrounding Variants

1 paper

NM_001010888.4

p.V285I

c.853G>A

2 papers

NM_001010888.4

p.R318Q

c.953G>A

1 paper

NM_001010888.4

p.K328Splc

c.984-1G>C

1 paper

NM_001010888.4

p.H227R

c.680A>G

1 paper

NM_001010888.4

p.D224Y

c.670G>T

1 paper

NM_001010888.4

p.C212F

c.635G>T

1 paper

NM_001010888.4

p.P378delFs

c.1132delC

1 paper

NM_001010888.4

p.D390E

c.1170T>A

1 paper

NM_001010888.4

p.D390E

c.1170T>G

1 paper

NM_001010888.4

p.G421C

c.1261G>T

1 paper

NM_001010888.4

p.M445I

c.1335G>A

1 paper

NM_001010888.4

p.M445I

c.1335G>C