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.L1740del1

c.5218_5219delCAA

Surrounding Variants

1 paper

NM_001079843.3

p.L1740delFs

c.5218_5219delAA

1 paper

NM_001079843.3

p.A1742_L1743insFs

c.5226_5227insT

1 paper

NM_001079843.3

p.L1743fs

c.5227_5228fs

3 papers

NM_001079843.3

p.P1738R

c.5213C>G

1 paper

NM_001079843.3

p.R1736Q

c.5207G>A

1 paper

NM_001079843.3

p.L1746P

c.5237T>C

1 paper

NM_001079843.3

p.G1732S

c.5194G>A

1 paper

NM_001079843.3

p.E1721A

c.5162A>C

1 paper

NM_001079843.3

p.E1721*

c.5161G>T

1 paper

NM_001079843.3

p.T1717fs

c.5149_5150fs

2 papers

NM_001079843.3

p.D1711_E1713del0

c.5133_5138del6

2 papers

NM_001079843.3

p.E1708_D1712del0

c.5124_5135del12