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.Q60R

c.179A>G

Surrounding Variants

1 paper

NM_001079843.3

p.S59delFs

c.175_176delGA

4 papers

NM_001079843.3

p.S59L

c.176C>T

1 paper

NM_001079843.3

p.P61P

c.183C>T

1 paper

NM_001079843.3

p.R62Q

c.185G>A

1 paper

NM_001079843.3

p.E55delFs

c.163delC

1 paper

NM_001079843.3

p.D49D

c.147C>T

1 paper

NM_001079843.3

p.G68_G72delFs

c.204_214del11

1 paper

NM_001079843.3

p.R75P

c.224G>C

1 paper

NM_001079843.3

p.P77L

c.230C>T

1 paper

NM_001079843.3

p.R78C

c.232C>T

1 paper

NM_001079843.3

p.R78S

c.232C>A

3 papers

NM_001079843.3

p.R78H

c.233G>A