Varaico: Literature-Extracted Genetic Variants

SNAI1

92 papers

RefSeq Summary

The Drosophila embryonic protein snail is a zinc finger transcriptional repressor which downregulates the expression of ectodermal genes within the mesoderm. The nuclear protein encoded by this gene i...

Pfam Domains

zf-C2H2_6aa 153–177UCSCC2H2-type zinc finger

zf-C2H2aa 180–202UCSCZinc finger, C2H2 type

zf-C2H2aa 208–230UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

snail family transcriptional repressor 1

HGNC Alias Symbols

SNA; SLUGH2; SNAH; SNAIL1; SNAIL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005985.4

p.D147N

c.439G>A

Surrounding Variants

1 paper

NM_005985.4

p.R151Q

c.452G>A

1 paper

NM_005985.4

p.E162*

c.484G>T

1 paper

NM_005985.4

p.E124Q

c.370G>C

1 paper

NM_005985.4

p.A123T

c.367G>A

1 paper

NM_005985.4

p.L121S

c.362T>C

1 paper

NM_005985.4

p.S119Y

c.356C>A

6 papers

NM_005985.4

p.V118A

c.353T>C

1 paper

NM_005985.4

p.T177A

c.529A>G

1 paper

NM_005985.4

p.T177T

c.531G>A

1 paper

NM_005985.4

p.P179R

c.536C>G

1 paper

NM_005985.4

p.C180*

c.540C>A

1 paper

NM_005985.4

p.F113L

c.337T>C