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

1–12 of 88 variants

4 papers

NM_020337.3

p.T367M

c.1100C>T

3 papers

NM_020337.3

p.T646R

c.1937C>G

1 paper

NM_020337.3

p.C25Y

c.74G>A

1 paper

NM_020337.3

p.E27*

c.79G>T

1 paper

NM_020337.3

p.E27K

c.79G>A

1 paper

NM_020337.3

p.M55V

c.163A>G

1 paper

NM_020337.3

p.H111Y

c.331C>T

1 paper

NM_020337.3

p.R136C

c.406C>T

1 paper

NM_020337.3

p.L147L

c.441A>G

1 paper

NM_020337.3

p.P182L

c.545C>T

1 paper

NM_020337.3

p.V191fs

c.571_572fs

1 paper

NM_020337.3

p.L190delFs

c.570delA