Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.R1895*

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.R1895*
c.5683A>T
Surrounding Variants
1 paper
NM_013275.6
p.P1894insFs
c.5682dupC
1 paper
NM_013275.6
p.R1895fs
c.5683_5684fs
1 paper
NM_013275.6
p.P1894R
c.5681C>G
1 paper
NM_013275.6
p.R1895fs
c.5683_5684fs
1 paper
NM_013275.6
p.P1894T
c.5680C>A
1 paper
NM_013275.6
p.S1893fs
c.5677_5678fs
1 paper
NM_013275.6
p.S1893insFs
c.5677dupT
1 paper
NM_013275.6
p.P1892L
c.5675C>T
1 paper
NM_013275.6
p.A1896_E1897del2
c.5686_5690del6
2 papers
NM_013275.6
p.K1889delFs
c.5667delT
1 paper
NM_013275.6
p.K1889K
c.5667A>G
1 paper
NM_013275.6
p.K1889fs
c.5665_5666fs
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