Varaico: Literature-Extracted Genetic Variants

Gene:ZNF184

ZNF184

41 papers

RefSeq Summary

The protein encoded by this gene is predicted to be a Kruppel C2H2-type zinc-finger protein family member. Sequence analysis predicts that the protein contains two Kruppel associated box (KRAB) boxes ...

Pfam Domains

KRABaa 27–68UCSCKRAB box
KRABaa 27–68UCSCKRAB box
zf-C2H2aa 222–244UCSCZinc finger, C2H2 type
zf-C2H2aa 222–244UCSCZinc finger, C2H2 type
zf-C2H2aa 250–272UCSCZinc finger, C2H2 type
zf-H2C2_2aa 292–317UCSCZinc-finger double domain

Gene Aliases

HGNC Name

zinc finger protein 184

HGNC Previous Name

zinc finger protein 184 (Kruppel-like)

Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
3 papers
NM_001318891.2
p.A27S
c.79G>T
2 papers
NM_001318891.2
p.H430Q
c.1290C>G
2 papers
NM_001318891.2
p.H430Q
c.1290C>A
2 papers
NM_001318891.2
p.E450K
c.1348G>A
1 paper
NM_001318891.2
p.E2_D3delFs
c.6_7delCT
1 paper
NM_001318891.2
p.S6_P7del2
c.16_20del6
1 paper
NM_001318891.2
p.Q25_E26Splc
c.76-456C>G
1 paper
NM_001318891.2
p.H63D
c.187C>G
1 paper
NM_001318891.2
p.P114R
c.341C>G
1 paper
NM_001318891.2
p.G184E
c.551G>A
1 paper
NM_001318891.2
p.S190N
c.569G>A
1 paper
NM_001318891.2
p.T195A
c.583A>G
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