Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.S580Y

ANKRD11

679 papers

RefSeq Summary

This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome...

Pfam Domains

Ank_2aa 145–231UCSCAnkyrin repeats (3 copies)
Ank_2aa 228–293UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain containing 11

HGNC Alias Symbols

LZ16; T13; ANCO1; ANCO-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013275.6
p.S580Y
c.1739C>A
Surrounding Variants
1 paper
NM_013275.6
p.E582*
c.1744G>T
1 paper
NM_013275.6
p.S581delFs
c.1742_1743delAG
1 paper
NM_013275.6
p.D578V
c.1733A>T
1 paper
NM_013275.6
p.S577insFs
c.1731dupT
1 paper
NM_013275.6
p.S577F
c.1730C>T
1 paper
NM_013275.6
p.E576*
c.1726G>T
3 papers
NM_013275.6
p.T571_S575delFs
c.1711_1723del13
3 papers
NM_013275.6
p.V586M
c.1756G>A
3 papers
NM_013275.6
p.V586fs
c.1756_1757fs
1 paper
NM_013275.6
p.V586fs
c.1756_1757fs
2 papers
NM_013275.6
p.S588L
c.1763C>T
1 paper
NM_013275.6
p.S588*
c.1763C>A
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