Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.K2146T

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.K2146T
c.6437A>C
Surrounding Variants
1 paper
NM_013275.6
p.K2146E
c.6436A>G
3 papers
NM_013275.6
p.K2146Q
c.6436A>C
1 paper
NM_013275.6
p.T2145I
c.6434C>T
3 papers
NM_013275.6
p.Q2144*
c.6430C>T
4 papers
NM_013275.6
p.L2143V
c.6427C>G
1 paper
NM_013275.6
p.D2150N
c.6448G>A
1 paper
NM_013275.6
p.P2142fs
c.6424_6425fs
1 paper
NM_013275.6
p.E2140D
c.6420G>T
1 paper
NM_013275.6
p.E2140D
c.6420G>C
1 paper
NM_013275.6
p.E2152K
c.6454G>A
6 papers
NM_013275.6
p.P2139L
c.6416C>T
1 paper
NM_013275.6
p.P2139S
c.6415C>T
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