Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.D1935_T1944del10

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.D1935_T1944del10
c.5803_5831del30
Surrounding Variants
2 papers
NM_013275.6
p.E1945*
c.5833G>T
1 paper
NM_013275.6
p.V1948I
c.5842G>A
1 paper
NM_013275.6
p.E1949Q
c.5845G>C
1 paper
NM_013275.6
p.W1950*
c.5849G>A
1 paper
NM_013275.6
p.W1950*
c.5850G>A
1 paper
NM_013275.6
p.P1938_F1939delFs
c.5813_5817del5
2 papers
NM_013275.6
p.F1939delFs
c.5815_5816delAA
1 paper
NM_013275.6
p.F1939fs
c.5815_5816fs
1 paper
NM_013275.6
p.P1938fs
c.5812_5813fs
1 paper
NM_013275.6
p.P1938S
c.5812C>T
2 papers
NM_013275.6
p.P1938fs
c.5812_5813fs
2 papers
NM_013275.6
p.G1937insFs
c.5810dupG
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."