Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.E2116G

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.E2116G
c.6347A>G
Surrounding Variants
1 paper
NM_013275.6
p.P2117fs
c.6349_6350fs
1 paper
NM_013275.6
p.P2117fs
c.6349_6350fs
3 papers
NM_013275.6
p.Q2114*
c.6340C>T
1 paper
NM_013275.6
p.G2113S
c.6337G>A
1 paper
NM_013275.6
p.W2120fs
c.6358_6359fs
1 paper
NM_013275.6
p.W2120*
c.6359G>A
2 papers
NM_013275.6
p.W2120*
c.6360G>A
1 paper
NM_013275.6
p.L2112V
c.6334C>G
1 paper
NM_013275.6
p.A2121T
c.6361G>A
2 papers
NM_013275.6
p.P2119_W2120delFs
c.6357_6360del4
1 paper
NM_013275.6
p.A2121V
c.6362C>T
1 paper
NM_013275.6
p.P2117_A2121delFs
c.6349_6362del14
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."