Varaico: Literature-Extracted Genetic Variants

Gene:CASZ1
Variant:p.D1710E

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.D1710E
c.5130C>A
Surrounding Variants
1 paper
NM_001079843.3
p.D1710E
c.5130C>G
1 paper
NM_001079843.3
p.D1703_E1708del6
c.5107_5123del18
1 paper
NM_001079843.3
p.D1711ins1
c.5132_5133insGGC
1 paper
NM_001079843.3
p.D1712_E1713insTR
c.5134_5138ins6
1 paper
NM_001079843.3
p.D1712ins2
c.5135_5136ins6
2 papers
NM_001079843.3
p.E1699_D1703del5
c.5095_5108del15
2 papers
NM_001079843.3
p.E1708_D1712del0
c.5124_5135del12
2 papers
NM_001079843.3
p.D1711_E1713del0
c.5133_5138del6
1 paper
NM_001079843.3
p.D1702_E1704del3
c.5104_5111del9
1 paper
NM_001079843.3
p.D1703_E1704del2
c.5107_5111del6
1 paper
NM_001079843.3
p.D1703_E1704del1
c.5109_5111delTCG
1 paper
NM_001079843.3
p.D1702_E1704del0
c.5106_5111del6
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."