Varaico: Literature-Extracted Genetic Variants

Gene:ARID5A
Variant:p.E427D

ARID5A

54 papers

RefSeq Summary

Members of the ARID protein family, including ARID5A, have diverse functions but all appear to play important roles in development, tissue-specific gene expression, and regulation of cell growth (Pats...

Pfam Domains

ARIDaa 57–143UCSCARID/BRIGHT DNA binding domain
ARIDaa 57–143UCSCARID/BRIGHT DNA binding domain

Gene Aliases

HGNC Name

AT-rich interaction domain 5A

HGNC Alias Symbols

MRF-1; RP11-363D14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_212481.3
p.E427D
c.1281G>T
Surrounding Variants
1 paper
NM_212481.3
p.E427D
c.1281G>C
1 paper
NM_212481.3
p.A426A
c.1278C>T
1 paper
NM_212481.3
p.K423N
c.1269G>C
1 paper
NM_212481.3
p.K423N
c.1269G>T
1 paper
NM_212481.3
p.P411H
c.1232C>A
1 paper
NM_212481.3
p.A452V
c.1355C>T
1 paper
NM_212481.3
p.V462E
c.1385T>A
1 paper
NM_212481.3
p.F465fs
c.1393_1394fs
1 paper
NM_212481.3
p.F465S
c.1394T>C
1 paper
NM_212481.3
p.G379R
c.1135G>A
1 paper
NM_212481.3
p.G379R
c.1135G>C
1 paper
NM_212481.3
p.G373R
c.1117G>A
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