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.S1210delFs

c.3630delT

Surrounding Variants

1 paper

NM_171999.4

p.S1210fs

c.3628_3629fs

1 paper

NM_171999.4

p.A1204E

c.3611C>A

1 paper

NM_171999.4

p.A1202V

c.3605C>T

1 paper

NM_171999.4

p.S1231S

c.3693C>T

1 paper

NM_171999.4

p.D1188N

c.3562G>A

1 paper

NM_171999.4

p.I1238V

c.3712A>G

1 paper

NM_171999.4

p.M1182V

c.3544A>G

1 paper

NM_171999.4

p.Q1240*

c.3718C>T

1 paper

NM_171999.4

p.L1250ins13

c.3749_3750ins39

1 paper

NM_171999.4

p.P1252L

c.3755C>T

1 paper

NM_171999.4

p.G1254C

c.3760G>T

1 paper

NM_171999.4

p.G1254G

c.3762C>A