Varaico: Literature-Extracted Genetic Variants

Gene:NAB2
Variant:p.E490Splc

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.E490Splc
c.1468+433A>C
Surrounding Variants
1 paper
NM_005967.4
p.E490Splc
c.1468+348T>G
1 paper
NM_005967.4
p.E490Splc
c.1469-109T>G
1 paper
NM_005967.4
p.L466F
c.1396C>T
1 paper
NM_005967.4
p.S451T
c.1352G>C
1 paper
NM_005967.4
p.G448W
c.1342G>T
1 paper
NM_005967.4
p.D439E
c.1317C>A
1 paper
NM_005967.4
p.A507V
c.1520C>T
1 paper
NM_005967.4
p.R512H
c.1535G>A
1 paper
NM_005967.4
p.E521K
c.1561G>A
1 paper
NM_005967.4
p.R405H
c.1214G>A
1 paper
NM_005967.4
p.R405C
c.1213C>T
1 paper
NM_005967.4
p.Y404S
c.1211A>C
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