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.K156M

c.467A>T

Surrounding Variants

2 papers

NM_020436.5

p.K156R

c.467A>G

1 paper

NM_020436.5

p.E158K

c.472G>A

1 paper

NM_020436.5

p.T159A

c.475A>G

2 papers

NM_020436.5

p.P163fs

c.487_488fs

3 papers

NM_020436.5

p.A149V

c.446C>T

2 papers

NM_020436.5

p.P162_P163delFs

c.486_487delGT

1 paper

NM_020436.5

p.T164_P165insACA

c.490_494ins9

1 paper

NM_020436.5

p.P147P

c.441G>A

3 papers

NM_020436.5

p.P147S

c.439C>T

7 papers

NM_020436.5

p.Q166*

c.496C>T

3 papers

NM_020436.5

p.Q166insFs

c.496dupC

2 papers

NM_020436.5

p.Q166fs

c.496_497fs