Varaico: Literature-Extracted Genetic Variants

Gene:BEGAIN
Variant:p.V173G

BEGAIN

22 papers

Pfam Domains

BEGAIN_coilaa 1–35UCSCBrain-enriched guanylate kinase-associated protein coiled-coil domain
BEGAIN_coilaa 7–99UCSCBrain-enriched guanylate kinase-associated protein coiled-coil domain

Gene Aliases

HGNC Name

brain enriched guanylate kinase associated

HGNC Alias Symbol

KIAA1446

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001385089.1
p.V173G
c.518T>G
Surrounding Variants
1 paper
NM_001385089.1
p.A212T
c.634G>A
1 paper
NM_001385089.1
p.C229fs
c.685_686fs
1 paper
NM_001385089.1
p.D272_V273del1
c.815_817delCGT
1 paper
NM_001385089.1
p.P307L
c.920C>T
1 paper
NM_020836.4
p.S399G
c.1195A>G
1 paper
NM_001385089.1
p.R434K
c.1301G>A
2 papers
NM_001385089.1
p.P509S
c.1525C>T
1 paper
NM_020836.4
p.C491*
c.1473C>A
1 paper
NM_001385089.1
p.L520insFs
c.1558_1559insGG
1 paper
NM_001385089.1
p.L520insFs
c.1559_1560insG
1 paper
NM_001385089.1
p.S552S
c.1656C>T
1 paper
NM_001385089.1
p.S567R
c.1701C>G
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