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

1–12 of 55 variants

2 papers

NM_182524.4

p.K73R

c.218A>G

2 papers

NM_182524.4

p.Y200fs

c.598_599fs

2 papers

NM_182524.4

p.Y200_K201insFs

c.600_601insA

2 papers

NM_182524.4

p.E203E

c.609A>G

2 papers

NM_182524.4

p.S408insFs

c.1223_1224insA

2 papers

NM_182524.4

p.T475N

c.1424C>A

2 papers

NM_182524.4

p.A600_F601insA

c.1798_1802ins3

1 paper

NM_182524.4

p.M1insFs

c.2dupT

1 paper

NM_182524.4

p.M1delins

c.1delinsT

1 paper

NM_182524.4

p.M1K

c.2T>A

1 paper

NM_182524.4

p.V4insFs

c.11_12insC

1 paper

NM_182524.4

p.I11_E12insC

c.31_35ins3