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.Y1299F

c.3896A>T

Surrounding Variants

1 paper

NM_020337.3

p.E1300Q

c.3898G>C

1 paper

NM_020337.3

p.E1300A

c.3899A>C

1 paper

NM_020337.3

p.E1298A

c.3893A>C

1 paper

NM_020337.3

p.D1305A

c.3914A>C

1 paper

NM_020337.3

p.K1285insFs

c.3855dupA

1 paper

NM_020337.3

p.A1286fs

c.3856_3857fs

1 paper

NM_020337.3

p.S1313A

c.3937T>G

1 paper

NM_020337.3

p.K1284R

c.3851A>G

1 paper

NM_020337.3

p.T1315A

c.3943A>G

1 paper

NM_020337.3

p.P1319H

c.3956C>A

1 paper

NM_020337.3

p.A1335S

c.4003G>T

1 paper

NM_020337.3

p.R1341R

c.4021C>A