Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.S769delFs

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
6 papers
NM_013275.6
p.S769delFs
c.2305delA
Surrounding Variants
1 paper
NM_013275.6
p.S769*
c.2306C>G
1 paper
NM_013275.6
p.S769*
c.2306C>A
1 paper
NM_013275.6
p.S769fs
c.2305_2306fs
2 papers
NM_013275.6
p.S769fs
c.2305_2306fs
1 paper
NM_013275.6
p.K770E
c.2308A>G
1 paper
NM_013275.6
p.S769delFs
c.2307delT
8 papers
NM_013275.6
p.K766_K767delFs
c.2297_2300del4
2 papers
NM_013275.6
p.K767*
c.2299A>T
1 paper
NM_013275.6
p.K766fs
c.2296_2297fs
1 paper
NM_013275.6
p.R772G
c.2314C>G
2 papers
NM_013275.6
p.K766fs
c.2296_2297fs
1 paper
NM_013275.6
p.P773S
c.2317C>T
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