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.S831L

c.2492C>T

Surrounding Variants

1 paper

NM_001079843.3

p.A830_S831insFs

c.2490_2491insT

1 paper

NM_001079843.3

p.S825L

c.2474C>T

1 paper

NM_001079843.3

p.V824E

c.2471T>A

1 paper

NM_001079843.3

p.T838M

c.2513C>T

2 papers

NM_001079843.3

p.G822S

c.2464G>A

6 papers

NM_001079843.3

p.V815_L820delFs

c.2443_2459del17

1 paper

NM_001079843.3

p.L820F

c.2458C>T

6 papers

NM_001079843.3

p.V815fs

c.2443_2444fs

1 paper

NM_001079843.3

p.V850fs

c.2548_2549fs

1 paper

NM_001079843.3

p.S812S

c.2436C>T

1 paper

NM_001079843.3

p.A852A

c.2556C>T

1 paper

NM_001079843.3

p.P856L

c.2567C>T