Varaico: Literature-Extracted Genetic Variants

Gene:BBX
Variant:p.A442T

BBX

92 papers

Pfam Domains

HMG_boxaa 80–148UCSCHMG (high mobility group) box
DUF2028aa 191–302UCSCDomain of unknown function (DUF2028)
DUF2028aa 289–323UCSCDomain of unknown function (DUF2028)

Gene Aliases

HGNC Name

BBX high mobility group box domain containing

HGNC Alias Symbols

MDS001; HSPC339; HBP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001142568.3
p.A442T
c.1324G>A
Surrounding Variants
1 paper
NM_001142568.3
p.A443A
c.1329A>G
1 paper
NM_001142568.3
p.I438T
c.1313T>C
1 paper
NM_001142568.3
p.P447S
c.1339C>T
1 paper
NM_001142568.3
p.P447Q
c.1340C>A
1 paper
NM_001142568.3
p.P423L
c.1268C>T
1 paper
NM_001142568.3
p.S467P
c.1399T>C
1 paper
NM_001142568.3
p.Q477K
c.1429C>A
1 paper
NM_001142568.3
p.S404G
c.1210A>G
1 paper
NM_001142568.3
p.E480G
c.1439A>G
1 paper
NM_001142568.3
p.E484A
c.1451A>C
2 papers
NM_001142568.3
p.S485S
c.1455C>T
1 paper
NM_001142568.3
p.V486I
c.1456G>A
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