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.L116P

c.347T>C

Surrounding Variants

2 papers

NM_001079843.3

p.R111C

c.331C>T

1 paper

NM_001079843.3

p.Q125*

c.373C>T

1 paper

NM_001079843.3

p.V105_L106delFs

c.313_317del5

1 paper

NM_001079843.3

p.V105M

c.313G>A

1 paper

NM_001079843.3

p.D131N

c.391G>A

1 paper

NM_001079843.3

p.Y96_E99del0

c.287_295del9

2 papers

NM_001079843.3

p.H135Q

c.405C>G

2 papers

NM_001079843.3

p.H135Q

c.405C>A

1 paper

NM_001079843.3

p.E89insFs

c.267dupG

1 paper

NM_001079843.3

p.G143S

c.427G>A

1 paper

NM_001079843.3

p.K83_I88del6

c.247_263del18

2 papers

NM_001079843.3

p.A86A

c.258A>G