Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.S1884*

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
5 papers
NM_013275.6
p.S1884*
c.5651C>G
Surrounding Variants
1 paper
NM_013275.6
p.S1884L
c.5651C>T
5 papers
NM_013275.6
p.S1884*
c.5651C>A
2 papers
NM_013275.6
p.F1883_S1884delFs
c.5647_5651del5
1 paper
NM_013275.6
p.F1883fs
c.5647_5648fs
1 paper
NM_013275.6
p.S1885N
c.5654G>A
1 paper
NM_013275.6
p.F1883fs
c.5647_5648fs
1 paper
NM_013275.6
p.V1882V
c.5646C>G
6 papers
NM_013275.6
p.Q1887*
c.5659C>T
1 paper
NM_013275.6
p.Q1887P
c.5660A>C
1 paper
NM_013275.6
p.E1880fs
c.5638_5639fs
2 papers
NM_013275.6
p.A1888fs
c.5662_5663fs
1 paper
NM_013275.6
p.P1879insFs
c.5637dupA
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