Varaico: Literature-Extracted Genetic Variants

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

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

1–12 of 52 variants

2 papers

NM_145102.4

p.L202R

c.605T>G

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.M1V

c.1A>G

1 paper

NM_145102.4

p.R54G

c.160A>G

1 paper

NM_145102.4

p.E60D

c.180G>C

1 paper

NM_145102.4

p.E60D

c.180G>T

1 paper

NM_145102.4

p.R65W

c.193C>T

1 paper

NM_145102.4

p.Q70E

c.208C>G

1 paper

NM_145102.4

p.P147L

c.440C>T

1 paper

NM_145102.4

p.Q157E

c.469C>G

1 paper

NM_145102.4

p.C160*

c.480C>A