Varaico: Literature-Extracted Genetic Variants

Gene:ZC3HAV1
Variant:p.E553V

ZC3HAV1

172 papers

RefSeq Summary

This gene encodes a CCCH-type zinc finger protein. This antiviral protein inhibits viral replication by recruiting cellular RNA degradation machineries to degrade viral mRNAs. The encoded protein play...

Pfam Domains

HTH_53aa 5–66UCSCZap helix turn helix N-terminal domain
zf-CCCH_PARP12aa 71–117UCSCPARP12-like CCCH zinc finger tandem
zf-CCCH_8aa 143–170UCSCZinc-finger antiviral protein (ZAP) zinc finger domain 3
WWE_4aa 536–590UCSCWWE domain
WWEaa 607–682UCSCWWE domain
PARPaa 737–868UCSCPoly(ADP-ribose) polymerase catalytic domain

Gene Aliases

HGNC Name

zinc finger CCCH-type containing, antiviral 1

HGNC Alias Symbols

FLB6421; FLJ13288; MGC48898; ZC3HDC2; ZC3H2; PARP13; ARTD13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020119.4
p.E553V
c.1658A>T
Surrounding Variants
1 paper
NM_020119.4
p.H565Q
c.1695C>G
1 paper
NM_020119.4
p.H565Q
c.1695C>A
1 paper
NM_020119.4
p.K519N
c.1557G>T
1 paper
NM_020119.4
p.K519N
c.1557G>C
1 paper
NM_020119.4
p.K519R
c.1556A>G
1 paper
NM_020119.4
p.K519E
c.1555A>G
1 paper
NM_020119.4
p.K519Q
c.1555A>C
1 paper
NM_020119.4
p.S502insFs
c.1504_1505insGC
2 papers
NM_020119.4
p.R577W
c.1729C>T
1 paper
NM_020119.4
p.R577Q
c.1730G>A
3 papers
NM_020119.4
p.Q620*
c.1858C>T
1 paper
NM_020119.4
p.D491N
c.1471G>A
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