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.S655P

c.1963T>C

Surrounding Variants

1 paper

NM_001010888.4

p.H685fs

c.2053_2054fs

1 paper

NM_001010888.4

p.Q691*

c.2071C>T

1 paper

NM_001010888.4

p.R694C

c.2080C>T

1 paper

NM_001010888.4

p.A728delFs

c.2184delC

1 paper

NM_001010888.4

p.R762W

c.2284C>T

1 paper

NM_001010888.4

p.R762Q

c.2285G>A

1 paper

NM_001010888.4

p.G541R

c.1621G>A

1 paper

NM_001010888.4

p.G541R

c.1621G>C

1 paper

NM_001010888.4

p.V777I

c.2329G>A

1 paper

NM_001010888.4

p.P804L

c.2411C>T

1 paper

NM_001010888.4

p.Q503L

c.1508A>T

1 paper

NM_001010888.4

p.S491I

c.1472G>T