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

1 paper

NM_020436.5

p.S169G

c.505A>G

Surrounding Variants

1 paper

NM_020436.5

p.Q166_S169del0

c.498_506del9

1 paper

NM_020436.5

p.D167V

c.500A>T

1 paper

NM_020436.5

p.L171insFs

c.512_513insGC

2 papers

NM_020436.5

p.Q166fs

c.496_497fs

1 paper

NM_020436.5

p.L171F

c.513A>T

1 paper

NM_020436.5

p.L171F

c.513A>C

3 papers

NM_020436.5

p.Q166insFs

c.496dupC

7 papers

NM_020436.5

p.Q166*

c.496C>T

1 paper

NM_020436.5

p.K173T

c.518A>C

1 paper

NM_020436.5

p.T164_P165insACA

c.490_494ins9

2 papers

NM_020436.5

p.P162_P163delFs

c.486_487delGT

2 papers

NM_020436.5

p.P163fs

c.487_488fs