Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.G2308D

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.G2308D
c.6923G>A
Surrounding Variants
2 papers
NM_013275.6
p.G2308V
c.6923G>T
1 paper
NM_013275.6
p.G2308fs
c.6922_6923fs
1 paper
NM_013275.6
p.G2308delFs
c.6923delC
1 paper
NM_013275.6
p.G2308fs
c.6922_6923fs
2 papers
NM_013275.6
p.P2307S
c.6919C>T
1 paper
NM_013275.6
p.P2306fs
c.6916_6917fs
1 paper
NM_013275.6
p.I2310F
c.6928A>T
1 paper
NM_013275.6
p.I2310fs
c.6928_6929fs
1 paper
NM_013275.6
p.Q2311R
c.6932A>G
1 paper
NM_013275.6
p.E2304fs
c.6910_6911fs
1 paper
NM_013275.6
p.P2306_A2314delFs
c.6917_6942del26
1 paper
NM_013275.6
p.A2301P
c.6901G>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."