Varaico: Literature-Extracted Genetic Variants

Gene:CASZ1
Variant:p.M182I

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.M182I
c.546G>C
Surrounding Variants
1 paper
NM_001079843.3
p.M182I
c.546G>T
1 paper
NM_001079843.3
p.M182I
c.546G>A
1 paper
NM_001079843.3
p.E184K
c.550G>A
1 paper
NM_001079843.3
p.G187S
c.559G>A
1 paper
NM_001079843.3
p.A178T
c.532G>A
1 paper
NM_001079843.3
p.Y177S
c.530A>C
1 paper
NM_001079843.3
p.M188T
c.563T>C
1 paper
NM_001079843.3
p.R175_D176del2
c.523_527del6
1 paper
NM_001079843.3
p.D176V
c.527A>T
1 paper
NM_001079843.3
p.D198N
c.592G>A
1 paper
NM_001079843.3
p.G169Splc
c.506-8C>T
1 paper
NM_001079843.3
p.L200R
c.599T>G
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