Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.Y1930*

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
3 papers
NM_013275.6
p.Y1930*
c.5790C>G
Surrounding Variants
3 papers
NM_013275.6
p.Y1930*
c.5790C>A
1 paper
NM_013275.6
p.P1926_L1931del0
c.5777_5791del15
3 papers
NM_013275.6
p.S1929N
c.5786G>A
1 paper
NM_013275.6
p.E1927fs
c.5779_5780fs
1 paper
NM_013275.6
p.E1927fs
c.5779_5780fs
1 paper
NM_013275.6
p.P1926insFs
c.5777dupC
1 paper
NM_013275.6
p.D1935V
c.5804A>T
1 paper
NM_013275.6
p.E1936*
c.5806G>T
1 paper
NM_013275.6
p.E1936K
c.5806G>A
1 paper
NM_013275.6
p.P1925T
c.5773C>A
1 paper
NM_013275.6
p.A1921_I1923del3
c.5761_5768del9
2 papers
NM_013275.6
p.G1937insFs
c.5810dupG
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