Varaico: Literature-Extracted Genetic Variants

Gene:ZKSCAN5
Variant:p.H619R

ZKSCAN5

46 papers

RefSeq Summary

This gene encodes a zinc finger protein of the Kruppel family. The protein contains a SCAN box and a KRAB A domain and may be involved in transcriptional regulation. A similar protein in mouse is diff...

Pfam Domains

SCANaa 46–135UCSCSCAN domain
SCANaa 46–135UCSCSCAN domain
KRABaa 220–258UCSCKRAB box
KRABaa 220–258UCSCKRAB box
KRABaa 220–258UCSCKRAB box
zf-C2H2aa 346–368UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger with KRAB and SCAN domains 5

HGNC Previous Symbol

ZFP95

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145102.4
p.H619R
c.1856A>G
Surrounding Variants
1 paper
NM_145102.4
p.G641A
c.1922G>C
1 paper
NM_145102.4
p.R645C
c.1933C>T
1 paper
NM_145102.4
p.R645H
c.1934G>A
2 papers
NM_145102.4
p.V590M
c.1768G>A
2 papers
NM_145102.4
p.R653*
c.1957C>T
1 paper
NM_145102.4
p.C579W
c.1737T>G
1 paper
NM_145102.4
p.C663Y
c.1988G>A
1 paper
NM_145102.4
p.R664R
c.1992T>C
1 paper
NM_145102.4
p.N688_E689insFs
c.2064_2065insA
1 paper
NM_145102.4
p.I710F
c.2128A>T
1 paper
NM_145102.4
p.K528N
c.1584G>C
1 paper
NM_145102.4
p.K528N
c.1584G>T
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