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.D736E

c.2208T>A

Surrounding Variants

1 paper

NM_020337.3

p.D736E

c.2208T>G

1 paper

NM_020337.3

p.D736D

c.2208T>C

1 paper

NM_020337.3

p.V731A

c.2192T>C

1 paper

NM_020337.3

p.V763A

c.2288T>C

1 paper

NM_020337.3

p.H705Y

c.2113C>T

1 paper

NM_020337.3

p.G771*

c.2311G>T

1 paper

NM_020337.3

p.V660L

c.1978G>T

1 paper

NM_020337.3

p.V660L

c.1978G>C

1 paper

NM_020337.3

p.V817I

c.2449G>A

3 papers

NM_020337.3

p.T646R

c.1937C>G

1 paper

NM_020337.3

p.V830I

c.2488G>A

1 paper

NM_020337.3

p.L833P

c.2498T>C