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

1 paper

NM_182524.4

p.Q323_S324insFs

c.969_970ins4

Surrounding Variants

1 paper

NM_182524.4

p.K315E

c.943A>G

1 paper

NM_182524.4

p.H302L

c.905A>T

1 paper

NM_182524.4

p.G346C

c.1036G>T

1 paper

NM_182524.4

p.Y284S

c.851A>C

1 paper

NM_182524.4

p.T270A

c.808A>G

1 paper

NM_182524.4

p.E260G

c.779A>G

1 paper

NM_182524.4

p.K248I

c.743A>T

2 papers

NM_182524.4

p.S408insFs

c.1223_1224insA

1 paper

NM_182524.4

p.A236insFs

c.706_707insC

1 paper

NM_182524.4

p.A236fs

c.706_707fs

1 paper

NM_182524.4

p.P227H

c.680C>A

1 paper

NM_182524.4

p.T223A

c.667A>G