Varaico: Literature-Extracted Genetic Variants

WDHD1

78 papers

RefSeq Summary

The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function a...

Pfam Domains

WD40aa 5–41UCSCWD domain, G-beta repeat

WD40aa 126–164UCSCWD domain, G-beta repeat

ANAPC4_WD40aa 192–284UCSCAnaphase-promoting complex subunit 4 WD40 domain

Mcl1_midaa 431–715UCSCMinichromosome loss protein, Mcl1, middle region

Ctf4_Caa 723–822UCSCDNA polymerase alpha-binding protein Ctf4, C-terminal domain

HMG_WDHD1aa 1018–1068UCSCWDHD1 HMG box

Gene Aliases

HGNC Name

WD repeat and HMG-box DNA binding protein 1

HGNC Alias Symbols

AND-1; CTF4; CHTF4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007086.4

p.S474F

c.1421C>T

Surrounding Variants

1 paper

NM_007086.4

p.H477N

c.1429C>A

1 paper

NM_007086.4

p.V468_F470insFs

c.1402_1409dup8

1 paper

NM_007086.4

p.F470fs

c.1408_1409fs

1 paper

NM_007086.4

p.R456H

c.1367G>A

1 paper

NM_007086.4

p.I497L

c.1489A>C

1 paper

NM_007086.4

p.S522N

c.1565G>A

1 paper

NM_007086.4

p.L440L

c.1320G>A

1 paper

NM_007086.4

p.S416F

c.1247C>T

1 paper

NM_007086.4

p.G590Splc

c.1769-1G>A

1 paper

NM_007086.4

p.Q597H

c.1791G>T

1 paper

NM_007086.4

p.Q597H

c.1791G>C

1 paper

NM_007086.4

p.P618S

c.1852C>T