Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.S513_L518delFs

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.S513_L518delFs
c.1539_1554del16
Surrounding Variants
1 paper
NM_013275.6
p.S519fs
c.1555_1556fs
1 paper
NM_013275.6
p.S519C
c.1556C>G
1 paper
NM_013275.6
p.S519delFs
c.1556_1557delAG
1 paper
NM_013275.6
p.A520fs
c.1558_1559fs
1 paper
NM_013275.6
p.A520V
c.1559C>T
1 paper
NM_013275.6
p.A520delFs
c.1558delC
1 paper
NM_013275.6
p.A520fs
c.1558_1559fs
1 paper
NM_013275.6
p.S521T
c.1561T>A
1 paper
NM_013275.6
p.F515fs
c.1543_1544fs
2 papers
NM_013275.6
p.S524L
c.1571C>T
1 paper
NM_013275.6
p.S513fs
c.1537_1538fs
1 paper
NM_013275.6
p.H526L
c.1577A>T
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