Varaico: Literature-Extracted Genetic Variants

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.A274S

c.820G>T

Surrounding Variants

1 paper

NM_171999.4

p.A276V

c.827C>T

1 paper

NM_171999.4

p.G277S

c.829G>A

1 paper

NM_171999.4

p.Q257R

c.770A>G

1 paper

NM_171999.4

p.P248L

c.743C>T

1 paper

NM_171999.4

p.P248S

c.742C>T

1 paper

NM_171999.4

p.G303S

c.907G>A

1 paper

NM_171999.4

p.Q229fs

c.685_686fs

1 paper

NM_171999.4

p.Q229delFs

c.685delC

1 paper

NM_171999.4

p.Q225E

c.673C>G

1 paper

NM_171999.4

p.S331C

c.991A>T

1 paper

NM_171999.4

p.S334*

c.1001C>A

1 paper

NM_171999.4

p.Q213*

c.637C>T