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.S669delins

c.2005_2006delinsGCTAATAATGA

Surrounding Variants

1 paper

NM_032217.5

p.S669ins3

c.2006_2007ins9

1 paper

NM_032217.5

p.S669A

c.2005T>G

1 paper

NM_032217.5

p.C672Y

c.2015G>A

1 paper

NM_032217.5

p.H676Y

c.2026C>T

1 paper

NM_001286771.3

p.G540Splc

c.1619-2A>C

1 paper

NM_032217.5

p.H686H

c.2058T>C

1 paper

NM_032217.5

p.V713L

c.2137G>C

1 paper

NM_032217.5

p.V713A

c.2138T>C

1 paper

NM_032217.5

p.P728L

c.2183C>T

1 paper

NM_032217.5

p.D730N

c.2188G>A

1 paper

NM_032217.5

p.P736S

c.2206C>T

1 paper

NM_032217.5

p.H739R

c.2216A>G