Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.S1776R

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.S1776R
c.5328C>G
Surrounding Variants
1 paper
NM_013275.6
p.S1776R
c.5328C>A
1 paper
NM_013275.6
p.Q1777*
c.5329C>T
1 paper
NM_013275.6
p.G1770_S1776del7
c.5308_5327del21
1 paper
NM_013275.6
p.S1776R
c.5326A>C
1 paper
NM_013275.6
p.A1775S
c.5323G>T
1 paper
NM_013275.6
p.A1778V
c.5333C>T
1 paper
NM_013275.6
p.P1779fs
c.5335_5336fs
1 paper
NM_013275.6
p.P1779fs
c.5335_5336fs
3 papers
NM_013275.6
p.A1780T
c.5338G>A
3 papers
NM_013275.6
p.E1773*
c.5317G>T
2 papers
NM_013275.6
p.S1772L
c.5315C>T
1 paper
NM_013275.6
p.A1778_P1782delFs
c.5334_5344del11
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