Varaico: Literature-Extracted Genetic Variants

Gene:ADGB
Variant:p.S568C

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
2 papers
NM_024694.4
p.S568C
c.1703C>G
Surrounding Variants
1 paper
NM_024694.4
p.Q569P
c.1706A>C
1 paper
NM_024694.4
p.H555R
c.1664A>G
2 papers
NM_024694.4
p.H555Y
c.1663C>T
1 paper
NM_024694.4
p.V546I
c.1636G>A
1 paper
NM_024694.4
p.R530P
c.1589G>C
1 paper
NM_024694.4
p.R530S
c.1588C>A
1 paper
NM_024694.4
p.P502A
c.1504C>G
1 paper
NM_024694.4
p.L481fs
c.1441_1442fs
1 paper
NM_024694.4
p.W479*
c.1437G>A
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
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