Varaico: Literature-Extracted Genetic Variants

Gene:SALL3
Variant:p.A790V

SALL3

128 papers

RefSeq Summary

This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations ...

Pfam Domains

zf-C2H2aa 448–470UCSCZinc finger, C2H2 type
zf-C2H2aa 707–729UCSCZinc finger, C2H2 type
zf-C2H2aa 739–761UCSCZinc finger, C2H2 type
zf-metaa 977–1000UCSCZinc-finger of C2H2 type
zf-C2H2aa 1113–1135UCSCZinc finger, C2H2 type
zf-C2H2aa 1141–1163UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

spalt like transcription factor 3

HGNC Alias Symbol

ZNF796

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_171999.4
p.A790V
c.2369C>T
Surrounding Variants
1 paper
NM_171999.4
p.Y796*
c.2388C>A
1 paper
NM_171999.4
p.Y796*
c.2388C>G
1 paper
NM_171999.4
p.D798E
c.2394C>A
1 paper
NM_171999.4
p.D798E
c.2394C>G
1 paper
NM_171999.4
p.E806G
c.2417A>G
1 paper
NM_171999.4
p.D807N
c.2419G>A
1 paper
NM_171999.4
p.L771L
c.2311C>T
1 paper
NM_171999.4
p.P767S
c.2299C>T
1 paper
NM_171999.4
p.P818L
c.2453C>T
1 paper
NM_171999.4
p.Y825Y
c.2475C>T
2 papers
NM_171999.4
p.A826A
c.2478G>A
1 paper
NM_171999.4
p.C829ins1
c.2486_2487insGCC
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