Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.R1993C

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.R1993C
c.5977C>T
Surrounding Variants
2 papers
NM_013275.6
p.K1992*
c.5974A>T
1 paper
NM_013275.6
p.K1992Q
c.5974A>C
1 paper
NM_013275.6
p.C1995R
c.5983T>C
1 paper
NM_013275.6
p.P1996L
c.5987C>T
1 paper
NM_013275.6
p.P1988S
c.5962C>T
4 papers
NM_013275.6
p.R1986delFs
c.5957_5958delTC
1 paper
NM_013275.6
p.R1986fs
c.5956_5957fs
1 paper
NM_013275.6
p.L2000F
c.5998C>T
1 paper
NM_013275.6
p.R1986fs
c.5956_5957fs
1 paper
NM_013275.6
p.L2000R
c.5999T>G
1 paper
NM_013275.6
p.Q1985fs
c.5953_5954fs
5 papers
NM_013275.6
p.Q1985delFs
c.5953_5954delTG
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