Varaico: Literature-Extracted Genetic Variants

Gene:ARID2
Variant:p.V1028fs

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.V1028fs
c.3082_3083fs
Surrounding Variants
1 paper
NM_152641.4
p.V1028insFs
c.3082_3083insTT
1 paper
NM_152641.4
p.Q1027L
c.3080A>T
1 paper
NM_152641.4
p.Q1027*
c.3079C>T
1 paper
NM_152641.4
p.V1026I
c.3076G>A
1 paper
NM_152641.4
p.V1026fs
c.3076_3077fs
1 paper
NM_152641.4
p.Q1025fs
c.3073_3074fs
7 papers
NM_152641.4
p.Q1031*
c.3091C>T
1 paper
NM_152641.4
p.Q1032*
c.3094C>T
2 papers
NM_152641.4
p.P1023L
c.3068C>T
1 paper
NM_152641.4
p.P1023S
c.3067C>T
1 paper
NM_152641.4
p.P1033S
c.3097C>T
1 paper
NM_152641.4
p.P1033P
c.3099C>T
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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."