Varaico: Literature-Extracted Genetic Variants

Gene:ZKSCAN5
Variant:p.L186F

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.L186F
c.556C>T
Surrounding Variants
2 papers
NM_145102.4
p.L202R
c.605T>G
1 paper
NM_145102.4
p.Q212R
c.635A>G
1 paper
NM_145102.4
p.V220L
c.658G>C
1 paper
NM_145102.4
p.V220L
c.658G>T
1 paper
NM_145102.4
p.D222N
c.664G>A
1 paper
NM_145102.4
p.S226Y
c.677C>A
1 paper
NM_145102.4
p.G258Splc
c.772+2T>C
1 paper
NM_145102.4
p.M265V
c.793A>G
1 paper
NM_145102.4
p.I268V
c.802A>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
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."