Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.E2204fs

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.E2204fs
c.6610_6611fs
Surrounding Variants
1 paper
NM_013275.6
p.E2204fs
c.6610_6611fs
1 paper
NM_013275.6
p.L2203_E2204insFs
c.6609_6610ins41
1 paper
NM_013275.6
p.A2201fs
c.6601_6602fs
1 paper
NM_013275.6
p.S2208A
c.6622T>G
1 paper
NM_013275.6
p.A2201delins
c.6601_6602delinsTT
4 papers
NM_013275.6
p.S2208*
c.6623C>G
4 papers
NM_013275.6
p.S2208*
c.6623C>A
2 papers
NM_013275.6
p.A2201fs
c.6601_6602fs
2 papers
NM_013275.6
p.S2208_G2209delFs
c.6624_6625delCT
2 papers
NM_013275.6
p.L2199insFs
c.6596_6597insA
3 papers
NM_013275.6
p.E2210*
c.6628G>T
1 paper
NM_013275.6
p.E2210Q
c.6628G>C
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."