Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.R1811G

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
2 papers
NM_013275.6
p.R1811G
c.5431A>G
Surrounding Variants
3 papers
NM_013275.6
p.L1809_F1810delFs
c.5426_5430del5
1 paper
NM_013275.6
p.Q1812*
c.5434C>T
1 paper
NM_013275.6
p.L1809fs
c.5425_5426fs
1 paper
NM_013275.6
p.Q1813fs
c.5437_5438fs
3 papers
NM_013275.6
p.Q1813*
c.5437C>T
2 papers
NM_013275.6
p.L1809fs
c.5425_5426fs
1 paper
NM_013275.6
p.Q1813insFs
c.5438_5439insT
1 paper
NM_013275.6
p.Q1813fs
c.5437_5438fs
3 papers
NM_013275.6
p.V1815I
c.5443G>A
1 paper
NM_013275.6
p.V1815A
c.5444T>C
1 paper
NM_013275.6
p.G1806E
c.5417G>A
2 papers
NM_013275.6
p.G1806R
c.5416G>C
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