Varaico: Literature-Extracted Genetic Variants

Gene:ANKUB1
Variant:p.P462delFs

ANKUB1

41 papers

Pfam Domains

Ank_4aa 244–294UCSCAnkyrin repeats (many copies)

Gene Aliases

HGNC Name

ankyrin repeat and ubiquitin domain containing 1

HGNC Previous Symbol

C3orf16

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001144960.3
p.P462delFs
c.1385delG
Surrounding Variants
1 paper
NM_001144960.3
p.P462fs
c.1384_1385fs
1 paper
NM_001144960.3
p.P462del1
c.1384_1385delTGG
1 paper
NM_001144960.3
p.F465S
c.1394T>C
1 paper
NM_001144960.3
p.T444delFs
c.1331_1332delTG
1 paper
NM_001144960.3
p.T444fs
c.1330_1331fs
1 paper
NM_001144960.3
p.N443delFs
c.1328delT
1 paper
NM_001144960.3
p.K437delFs
c.1311delT
1 paper
NM_001144960.3
p.E492K
c.1474G>A
1 paper
NM_001144960.3
p.N493N
c.1479C>T
4 papers
NM_001144960.3
p.S386G
c.1156A>G
1 paper
NM_001144960.3
p.S381C
c.1141A>T
1 paper
NM_001144960.3
p.T353A
c.1057A>G
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