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.E448V

c.1343A>T

Surrounding Variants

1 paper

NM_032217.5

p.P470S

c.1408C>T

1 paper

NM_032217.5

p.G478G

c.1434G>A

1 paper

NM_032217.5

p.A483V

c.1448C>T

1 paper

NM_032217.5

p.M505L

c.1513A>T

1 paper

NM_032217.5

p.M505L

c.1513A>C

1 paper

NM_032217.5

p.A508T

c.1522G>A

2 papers

NM_032217.5

p.R509*

c.1525C>T

2 papers

NM_032217.5

p.E513K

c.1537G>A

2 papers

NM_032217.5

p.L519P

c.1556T>C

1 paper

NM_032217.5

p.A541P

c.1621G>C

1 paper

NM_032217.5

p.A556ins3

c.1667_1668ins9

1 paper

NM_032217.5

p.E561K

c.1681G>A