Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.D511G

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.D511G
c.1532A>G
Surrounding Variants
1 paper
NM_013275.6
p.K510*
c.1528A>T
2 papers
NM_013275.6
p.L509P
c.1526T>C
1 paper
NM_013275.6
p.L509Q
c.1526T>A
1 paper
NM_013275.6
p.S513fs
c.1537_1538fs
1 paper
NM_013275.6
p.V508fs
c.1522_1523fs
2 papers
NM_013275.6
p.V508delFs
c.1523delA
1 paper
NM_013275.6
p.V508G
c.1523T>G
1 paper
NM_013275.6
p.V508fs
c.1522_1523fs
1 paper
NM_013275.6
p.L507fs
c.1519_1520fs
1 paper
NM_013275.6
p.F515fs
c.1543_1544fs
1 paper
NM_013275.6
p.P506fs
c.1516_1517fs
1 paper
NM_013275.6
p.S519fs
c.1555_1556fs
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