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.S1180*

c.3539C>G

Surrounding Variants

1 paper

NM_020337.3

p.S1180*

c.3539C>A

1 paper

NM_020337.3

p.R1225H

c.3674G>A

1 paper

NM_020337.3

p.R1229*

c.3685C>T

1 paper

NM_020337.3

p.I1232V

c.3694A>G

1 paper

NM_020337.3

p.F1253C

c.3758T>G

1 paper

NM_020337.3

p.A1086S

c.3256G>T

1 paper

NM_020337.3

p.K1284R

c.3851A>G

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.N1072S

c.3215A>G

1 paper

NM_020337.3

p.E1298A

c.3893A>C

1 paper

NM_020337.3

p.Y1299F

c.3896A>T