Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.Q2283*

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
3 papers
NM_013275.6
p.Q2283*
c.6847C>T
Surrounding Variants
1 paper
NM_013275.6
p.A2284V
c.6851C>T
1 paper
NM_013275.6
p.V2279_A2280delFs
c.6837_6838delCC
10 papers
NM_013275.6
p.V2279delFs
c.6836_6837delCA
1 paper
NM_013275.6
p.D2286fs
c.6856_6857fs
1 paper
NM_013275.6
p.V2279fs
c.6835_6836fs
1 paper
NM_013275.6
p.D2286fs
c.6856_6857fs
7 papers
NM_013275.6
p.V2279fs
c.6835_6836fs
1 paper
NM_013275.6
p.T2278delFs
c.6833_6834delAG
1 paper
NM_013275.6
p.D2286delFs
c.6858delG
1 paper
NM_013275.6
p.T2278fs
c.6832_6833fs
3 papers
NM_013275.6
p.G2273_T2278delFs
c.6817_6833del17
1 paper
NM_013275.6
p.G2287A
c.6860G>C
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