Varaico: Literature-Extracted Genetic Variants

Gene:ZKSCAN5
Variant:p.I268V

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.I268V
c.802A>G
Surrounding Variants
1 paper
NM_145102.4
p.M265V
c.793A>G
1 paper
NM_145102.4
p.Q271K
c.811C>A
1 paper
NM_145102.4
p.F296delFs
c.886delT
1 paper
NM_145102.4
p.F296fs
c.886_887fs
1 paper
NM_145102.4
p.P313P
c.939C>T
1 paper
NM_145102.4
p.C376C
c.1128C>T
1 paper
NM_145102.4
p.G408R
c.1222G>A
1 paper
NM_145102.4
p.G408R
c.1222G>C
1 paper
NM_145102.4
p.G426delFs
c.1277_1278delGA
1 paper
NM_145102.4
p.E502K
c.1504G>A
1 paper
NM_145102.4
p.K528N
c.1584G>C
1 paper
NM_145102.4
p.K528N
c.1584G>T
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