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.K634*

c.1900A>T

Surrounding Variants

2 papers

NM_020436.5

p.F635fs

c.1903_1904fs

7 papers

NM_020436.5

p.F635delFs

c.1904delA

1 paper

NM_020436.5

p.T636A

c.1906A>G

3 papers

NM_020436.5

p.M640insFs

c.1919dupT

1 paper

NM_020436.5

p.M640fs

c.1918_1919fs

1 paper

NM_020436.5

p.S627L

c.1880C>T

1 paper

NM_020436.5

p.L641L

c.1923G>A

1 paper

NM_020436.5

p.T624M

c.1871C>T

1 paper

NM_020436.5

p.H644Y

c.1930C>T

1 paper

NM_020436.5

p.H644D

c.1930C>G

1 paper

NM_020436.5

p.K623N

c.1869G>T

1 paper

NM_020436.5

p.K623N

c.1869G>C