Varaico: Literature-Extracted Genetic Variants

Gene:SNAI2
Variant:p.N134D

SNAI2

101 papers

RefSeq Summary

This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to ...

Pfam Domains

zf-C2H2aa 128–150UCSCZinc finger, C2H2 type
zf-C2H2aa 159–181UCSCZinc finger, C2H2 type
zf-C2H2aa 185–207UCSCZinc finger, C2H2 type
zf-C2H2aa 213–235UCSCZinc finger, C2H2 type
zf-C2H2aa 241–262UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

snail family transcriptional repressor 2

HGNC Previous Symbol

SLUG

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003068.5
p.N134D
c.400A>G
Surrounding Variants
1 paper
NM_003068.5
p.N134S
c.401A>G
1 paper
NM_003068.5
p.K135R
c.404A>G
1 paper
NM_003068.5
p.Y137N
c.409T>A
1 paper
NM_003068.5
p.C130G
c.388T>G
1 paper
NM_003068.5
p.L143L
c.427C>T
4 papers
NM_003068.5
p.A122V
c.365C>T
1 paper
NM_003068.5
p.P120P
c.360C>A
2 papers
NM_003068.5
p.D119E
c.357C>G
2 papers
NM_003068.5
p.D119E
c.357C>A
1 paper
NM_003068.5
p.K116N
c.348G>C
1 paper
NM_003068.5
p.S155fs
c.463_464fs
1 paper
NM_003068.5
p.K157E
c.469A>G
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