Varaico: Literature-Extracted Genetic Variants

ZNF595

36 papers

RefSeq Summary

This gene encodes a protein belonging to the Cys2His2 zinc finger protein family, whose members function as transcription factors that can regulate a broad variety of developmental and cellular proces...

Pfam Domains

KRABaa 3–44UCSCKRAB box

zf-C2H2aa 17–39UCSCZinc finger, C2H2 type

zf-C2H2aa 45–67UCSCZinc finger, C2H2 type

zf-C2H2aa 73–95UCSCZinc finger, C2H2 type

zf-C2H2aa 101–123UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 595

HGNC Alias Symbol

FLJ31740

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_182524.4

p.E203E

c.609A>G

Surrounding Variants

1 paper

NM_182524.4

p.E203_K204insFs

c.609_610insC

2 papers

NM_182524.4

p.Y200_K201insFs

c.600_601insA

2 papers

NM_182524.4

p.Y200fs

c.598_599fs

1 paper

NM_182524.4

p.A208_F209delins

c.623_625delinsATA

1 paper

NM_182524.4

p.N210Y

c.628A>T

1 paper

NM_182524.4

p.T213delFs

c.637delA

1 paper

NM_182524.4

p.G192insFs

c.574_575insA

1 paper

NM_182524.4

p.G192fs

c.574_575fs

1 paper

NM_182524.4

p.Q189insFs

c.566_567insG

1 paper

NM_182524.4

p.I221insFs

c.662_663insG

1 paper

NM_182524.4

p.T223A

c.667A>G

1 paper

NM_182524.4

p.P227H

c.680C>A