Varaico: Literature-Extracted Genetic Variants

Gene:CASZ1
Variant:p.L731M

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.L731M
c.2191C>A
Surrounding Variants
1 paper
NM_001079843.3
p.A730T
c.2188G>A
1 paper
NM_001079843.3
p.S737R
c.2209A>C
1 paper
NM_001079843.3
p.S737R
c.2211C>G
1 paper
NM_001079843.3
p.S737R
c.2211C>A
1 paper
NM_001079843.3
p.D723Y
c.2167G>T
1 paper
NM_001079843.3
p.T715_E716del2
c.2143_2147del6
1 paper
NM_001079843.3
p.T715M
c.2144C>T
1 paper
NM_001079843.3
p.S748P
c.2242T>C
1 paper
NM_001079843.3
p.A753A
c.2259C>T
1 paper
NM_001079843.3
p.S708L
c.2123C>T
8 papers
NM_001079843.3
p.P706L
c.2117C>T
1 paper
NM_001079843.3
p.A757T
c.2269G>A
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