Varaico: Literature-Extracted Genetic Variants

ANKRD50

4q28.1 (UCSC)OMIM GTEx

79 papers

Pfam Domains

NPHP3_Naa 65–223UCSCNephrocystin 3, N-terminal

AAA_lid_TANC1aa 253–339UCSCTANC1-like, AAA+ ATPase lid domain

WHD_TANC1aa 340–478UCSCTANC1-like, winged helix-turn-helix domain

Gene Aliases

HGNC Name

ankyrin repeat domain containing 50

HGNC Alias Symbol

KIAA1223

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020337.3

p.T580T

c.1740A>G

Surrounding Variants

1 paper

NM_020337.3

p.I573T

c.1718T>C

1 paper

NM_020337.3

p.N595I

c.1784A>T

1 paper

NM_020337.3

p.G545E

c.1634G>A

1 paper

NM_020337.3

p.A619A

c.1857T>G

1 paper

NM_020337.3

p.G622D

c.1865G>A

1 paper

NM_020337.3

p.R529Q

c.1586G>A

1 paper

NM_020337.3

p.R529W

c.1585C>T

3 papers

NM_020337.3

p.T646R

c.1937C>G

1 paper

NM_020337.3

p.H506P

c.1517A>C

1 paper

NM_020337.3

p.H506D

c.1516C>G

1 paper

NM_020337.3

p.A505T

c.1513G>A

1 paper

NM_020337.3

p.V501V

c.1503T>C