Varaico: Literature-Extracted Genetic Variants

CASZ1

205 papers

RefSeq Summary

The protein encoded by this gene is a zinc finger transcription factor. The encoded protein may function as a tumor suppressor, and single nucleotide polymorphisms in this gene are associated with blo...

Pfam Domains

zf-C2H2_CASZ1aa 524–582UCSCCASZ1-like, zinc finger

zf-C2H2_CASZ1aa 584–641UCSCCASZ1-like, zinc finger

zf-C2H2_CASZ1aa 643–698UCSCCASZ1-like, zinc finger

zf-C2H2_CASZ1aa 1158–1212UCSCCASZ1-like, zinc finger

zf-C2H2_CASZ1aa 1218–1273UCSCCASZ1-like, zinc finger

zf-C2H2_CASZ1aa 1275–1331UCSCCASZ1-like, zinc finger

Gene Aliases

HGNC Name

castor zinc finger 1

HGNC Alias Symbols

FLJ20321; ZNF693; SRG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001079843.3

p.Q317fs

c.949_950fs

Surrounding Variants

1 paper

NM_001079843.3

p.Q317*

c.949C>T

1 paper

NM_001079843.3

p.D313_Q317del5

c.937_950del15

1 paper

NM_001079843.3

p.I316_K318Fs

c.948_954delinsAGCACFs

1 paper

NM_001079843.3

p.G322S

c.964G>A

1 paper

NM_001079843.3

p.G322G

c.966C>A

1 paper

NM_001079843.3

p.E323D

c.969G>T

1 paper

NM_001079843.3

p.E323D

c.969G>C

1 paper

NM_001079843.3

p.R308Q

c.923G>A

1 paper

NM_001079843.3

p.R326W

c.976C>T

1 paper

NM_001079843.3

p.A307V

c.920C>T

1 paper

NM_001079843.3

p.A307S

c.919G>T

1 paper

NM_001079843.3

p.T287_P295del9

c.859_884del27