Varaico: Literature-Extracted Genetic Variants

Gene:ADGB
Variant:p.W479*

ADGB

127 papers

Pfam Domains

Peptidase_C2aa 178–317UCSCCalpain family cysteine protease
Androglobin_IIaa 653–778UCSCAndroglobin, domain II
Androglobin_IVaa 987–1095UCSCAndroglobin, domain IV
Androglobin_Vaa 1103–1377UCSCAndroglobin, domain V

Gene Aliases

HGNC Name

androglobin

HGNC Previous Symbol

C6orf103

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024694.4
p.W479*
c.1437G>A
Surrounding Variants
1 paper
NM_024694.4
p.L481fs
c.1441_1442fs
1 paper
NM_024694.4
p.L476R
c.1427T>G
1 paper
NM_024694.4
p.V457M
c.1369G>A
1 paper
NM_024694.4
p.A441D
c.1322C>A
1 paper
NM_024694.4
p.P502A
c.1504C>G
1 paper
NM_024694.4
p.M437T
c.1310T>C
1 paper
NM_024694.4
p.I431F
c.1291A>T
1 paper
NM_024694.4
p.L426delFs
c.1277delT
2 papers
NM_024694.4
p.A419A
c.1257G>A
1 paper
NM_024694.4
p.A419V
c.1256C>T
1 paper
NM_024694.4
p.R530S
c.1588C>A
1 paper
NM_024694.4
p.R530P
c.1589G>C
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