Varaico: Literature-Extracted Genetic Variants

Gene:NAB2
Variant:p.E319_L320Splc

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
2 papers
NM_005967.4
p.E319_L320Splc
c.958-198A>C
Surrounding Variants
1 paper
NM_005967.4
p.E319_L320Splc
c.958-8C>T
1 paper
NM_005967.4
p.A351A
c.1053C>T
1 paper
NM_005967.4
p.Y356*
c.1068C>A
1 paper
NM_005967.4
p.Y356*
c.1068C>G
1 paper
NM_005967.4
p.E293Q
c.877G>C
1 paper
NM_005967.4
p.E293*
c.877G>T
1 paper
NM_005967.4
p.R276Q
c.827G>A
1 paper
NM_005967.4
p.L268L
c.804A>G
1 paper
NM_005967.4
p.D260G
c.779A>G
1 paper
NM_005967.4
p.D260fs
c.778_779fs
1 paper
NM_005967.4
p.E247Q
c.739G>C
1 paper
NM_005967.4
p.V242L
c.724G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."