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.N1072S

c.3215A>G

Surrounding Variants

1 paper

NM_020337.3

p.A1086S

c.3256G>T

1 paper

NM_020337.3

p.C1050delFs

c.3149_3150delAC

1 paper

NM_020337.3

p.H1040N

c.3118C>A

1 paper

NM_020337.3

p.W1021C

c.3063G>T

1 paper

NM_020337.3

p.W1021C

c.3063G>C

1 paper

NM_020337.3

p.L966fs

c.2896_2897fs

1 paper

NM_020337.3

p.S1180*

c.3539C>G

1 paper

NM_020337.3

p.S1180*

c.3539C>A

1 paper

NM_020337.3

p.I928V

c.2782A>G

1 paper

NM_020337.3

p.G924R

c.2770G>C

1 paper

NM_020337.3

p.G924R

c.2770G>A

1 paper

NM_020337.3

p.R1225H

c.3674G>A