Varaico: Literature-Extracted Genetic Variants

Gene:ARID2
Variant:p.H675fs

ARID2

949 papers

RefSeq Summary

This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulati...

Pfam Domains

ARIDaa 15–101UCSCARID/BRIGHT DNA binding domain
RFX_DNA_bindingaa 521–603UCSCRFX DNA-binding domain

Gene Aliases

HGNC Name

AT-rich interaction domain 2

HGNC Alias Symbols

KIAA1557; DKFZp686G052; FLJ30619; BAF200; SMARCF3; ZIPZAP; p200

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152641.4
p.H675fs
c.2023_2024fs
Surrounding Variants
1 paper
NM_152641.4
p.H675insFs
c.2024_2025insG
1 paper
NM_152641.4
p.V674_H675ins16
c.2020_2024ins48
3 papers
NM_152641.4
p.V677M
c.2029G>A
1 paper
NM_152641.4
p.V677E
c.2030T>A
1 paper
NM_152641.4
p.Q672R
c.2015A>G
1 paper
NM_152641.4
p.Q672_G673insG
c.2014_2018ins3
1 paper
NM_152641.4
p.Q672*
c.2014C>T
1 paper
NM_152641.4
p.A678T
c.2032G>A
2 papers
NM_152641.4
p.Q679*
c.2035C>T
1 paper
NM_152641.4
p.Q679H
c.2037A>C
1 paper
NM_152641.4
p.Q679H
c.2037A>T
1 paper
NM_152641.4
p.P670insFs
c.2009_2010insTT
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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."