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.H476N

c.1426C>A

Surrounding Variants

1 paper

NM_171999.4

p.P475S

c.1423C>T

1 paper

NM_171999.4

p.Q478H

c.1434G>C

1 paper

NM_171999.4

p.Q478H

c.1434G>T

1 paper

NM_171999.4

p.K464K

c.1392G>A

1 paper

NM_171999.4

p.S495L

c.1484C>T

1 paper

NM_171999.4

p.L435F

c.1303C>T

1 paper

NM_171999.4

p.S433T

c.1298G>C

1 paper

NM_171999.4

p.G430V

c.1289G>T

1 paper

NM_171999.4

p.P523P

c.1569C>T

1 paper

NM_171999.4

p.K427_F429del0

c.1279_1287del9

1 paper

NM_171999.4

p.K421N

c.1263A>T

1 paper

NM_171999.4

p.T533A

c.1597A>G