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

1–12 of 241 variants

3 papers

NM_032217.5

p.K75M

c.224A>T

3 papers

NM_032217.5

p.A224T

c.670G>A

2 papers

NM_032217.5

p.G101_G105del0

c.303_314del12

2 papers

NM_032217.5

p.G110ins0

c.328_330dupGGC

2 papers

NM_032217.5

p.G278V

c.833G>T

2 papers

NM_032217.5

p.T303_V314del12

c.907_941del36

2 papers

NM_032217.5

p.R418*

c.1252C>T

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

2 papers

NM_032217.5

p.E626K

c.1876G>A

2 papers

NM_032217.5

p.A966T

c.2896G>A