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.D93D

c.279T>C

Surrounding Variants

1 paper

NM_005985.4

p.D93H

c.277G>C

1 paper

NM_005985.4

p.S96G

c.286A>G

1 paper

NM_005985.4

p.K98I

c.293A>T

1 paper

NM_005985.4

p.S100A

c.298T>G

1 paper

NM_005985.4

p.Q101P

c.302A>C

1 paper

NM_005985.4

p.S104R

c.310A>C

1 paper

NM_005985.4

p.S104R

c.312C>A

1 paper

NM_005985.4

p.S104R

c.312C>G

1 paper

NM_005985.4

p.L77I

c.229C>A

1 paper

NM_005985.4

p.S76S

c.228C>T

1 paper

NM_005985.4

p.S111L

c.332C>T

1 paper

NM_005985.4

p.W74*

c.222G>A