Varaico: Literature-Extracted Genetic Variants

Gene:NAB2
Variant:p.S56del1

NAB2

74 papers

RefSeq Summary

This gene encodes a member of the family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of t...

Pfam Domains

SAM_NCD1aa 36–114UCSCNAB conserved region 1 (NCD1) SAM domain
NCD2aa 236–364UCSCNAB conserved region 2 (NCD2)

Gene Aliases

HGNC Name

NGFI-A binding protein 2

HGNC Alias Symbol

MADER

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005967.4
p.S56del1
c.166_167delTCC
Surrounding Variants
1 paper
NM_005967.4
p.E59K
c.175G>A
1 paper
NM_005967.4
p.R47W
c.139C>T
1 paper
NM_005967.4
p.E82K
c.244G>A
1 paper
NM_005967.4
p.Q100Q
c.300G>A
1 paper
NM_005967.4
p.L103L
c.309G>A
1 paper
NM_005967.4
p.V122V
c.366C>G
1 paper
NM_005967.4
p.I130V
c.388A>G
1 paper
NM_005967.4
p.R137R
c.411G>C
1 paper
NM_005967.4
p.G149V
c.446G>T
1 paper
NM_005967.4
p.K151delFs
c.452delA
1 paper
NM_005967.4
p.K151fs
c.451_452fs
1 paper
NM_005967.4
p.L166_E168del3
c.496_503del9
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."