Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.T2459T

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.T2459T
c.7377G>A
Surrounding Variants
2 papers
NM_013275.6
p.P2460S
c.7378C>T
1 paper
NM_013275.6
p.P2463R
c.7388C>G
1 paper
NM_013275.6
p.P2463H
c.7388C>A
2 papers
NM_013275.6
p.I2454delFs
c.7362delG
1 paper
NM_013275.6
p.L2455fs
c.7363_7364fs
1 paper
NM_013275.6
p.K2453fs
c.7357_7358fs
3 papers
NM_013275.6
p.K2453fs
c.7357_7358fs
3 papers
NM_013275.6
p.R2452insFs
c.7356dupC
1 paper
NM_013275.6
p.R2452P
c.7355G>C
1 paper
NM_013275.6
p.R2452H
c.7355G>A
3 papers
NM_013275.6
p.R2452C
c.7354C>T
5 papers
NM_013275.6
p.R2452G
c.7354C>G
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