Varaico: Literature-Extracted Genetic Variants

SALL4

268 papers

RefSeq Summary

This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternat...

Pfam Domains

zf-C2H2aa 382–404UCSCZinc finger, C2H2 type

zf-C2H2aa 410–432UCSCZinc finger, C2H2 type

zf-C2H2aa 594–616UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

spalt like transcription factor 4

HGNC Alias Symbols

dJ1112F19.1; ZNF797

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_020436.5

p.E689K

c.2065G>A

Surrounding Variants

2 papers

NM_020436.5

p.D685H

c.2053G>C

1 paper

NM_020436.5

p.E694D

c.2082G>C

2 papers

NM_020436.5

p.A681T

c.2041G>A

1 paper

NM_020436.5

p.G680S

c.2038G>A

5 papers

NM_020436.5

p.T679T

c.2037C>T

2 papers

NM_020436.5

p.T679S

c.2036C>G

2 papers

NM_020436.5

p.T679S

c.2035A>T

1 paper

NM_020436.5

p.S706F

c.2117C>T

1 paper

NM_020436.5

p.F665_P670del0

c.1995_2009del15

1 paper

NM_020436.5

p.P659_S668del10

c.1975_2003del30

1 paper

NM_020436.5

p.P711S

c.2131C>T

1 paper

NM_020436.5

p.P713L

c.2138C>T