Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.V2044A

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.V2044A
c.6131T>C
Surrounding Variants
3 papers
NM_013275.6
p.V2044I
c.6130G>A
2 papers
NM_013275.6
p.K2038_V2044del0
c.6112_6132del21
1 paper
NM_013275.6
p.A2043V
c.6128C>T
1 paper
NM_013275.6
p.A2043T
c.6127G>A
1 paper
NM_013275.6
p.A2046T
c.6136G>A
1 paper
NM_013275.6
p.G2040_D2042delFs
c.6118_6125del8
3 papers
NM_013275.6
p.D2042G
c.6125A>G
2 papers
NM_013275.6
p.A2046delFs
c.6138delG
1 paper
NM_013275.6
p.A2047fs
c.6139_6140fs
1 paper
NM_013275.6
p.V2041G
c.6122T>G
1 paper
NM_013275.6
p.A2047G
c.6140C>G
1 paper
NM_013275.6
p.A2047fs
c.6139_6140fs
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."