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

1–12 of 413 variants

8 papers

NM_001079843.3

p.P706L

c.2117C>T

6 papers

NM_001079843.3

p.A20T

c.58G>A

6 papers

NM_001079843.3

p.V815fs

c.2443_2444fs

6 papers

NM_001079843.3

p.V815_L820delFs

c.2443_2459del17

5 papers

NM_001079843.3

p.L38P

c.113T>C

5 papers

NM_001079843.3

p.V265A

c.794T>C

5 papers

NM_001079843.3

p.K351*

c.1051A>T

5 papers

NM_001079843.3

p.E1699_D1703del0

c.5097_5108del12

4 papers

NM_001079843.3

p.E7V

c.20A>T

4 papers

NM_001079843.3

p.S59L

c.176C>T

4 papers

NM_001079843.3

p.R277W

c.829C>T

4 papers

NM_001079843.3

p.A1083V

c.3248C>T