Varaico: Literature-Extracted Genetic Variants

ANKRD17

143 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of ankyrin repeat-containing proteins, and contains two distinct arrays of ankyrin repeats in its amino-terminal region, one with 15 ankyrin repe...

Pfam Domains

Ank_2aa 238–331UCSCAnkyrin repeats (3 copies)

Ank_2aa 323–397UCSCAnkyrin repeats (3 copies)

Ank_2aa 390–464UCSCAnkyrin repeats (3 copies)

Ank_2aa 462–530UCSCAnkyrin repeats (3 copies)

Ank_2aa 528–594UCSCAnkyrin repeats (3 copies)

Ank_2aa 568–660UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 17

HGNC Alias Symbols

GTAR; KIAA0697; FLJ22206; NY-BR-16; MASK2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032217.5

p.E626A

c.1877A>C

Surrounding Variants

1 paper

NM_032217.5

p.E626G

c.1877A>G

2 papers

NM_032217.5

p.E626K

c.1876G>A

1 paper

NM_032217.5

p.G653Splc

c.1957+26T>C

1 paper

NM_032217.5

p.L623R

c.1868T>G

1 paper

NM_032217.5

p.A621T

c.1861G>A

1 paper

NM_032217.5

p.A600P

c.1798G>C

1 paper

NM_032217.5

p.G597E

c.1790G>A

1 paper

NM_001286771.3

p.G540Splc

c.1619-2A>C

1 paper

NM_032217.5

p.S669A

c.2005T>G

1 paper

NM_032217.5

p.S669ins3

c.2006_2007ins9

1 paper

NM_032217.5

p.S669delins

c.2005_2006delinsGCTAATAATGA

1 paper

NM_032217.5

p.C672Y

c.2015G>A