Varaico: Literature-Extracted Genetic Variants

WDR1

135 papers

RefSeq Summary

This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. ...

Pfam Domains

WD40aa 50–86UCSCWD domain, G-beta repeat

WD40aa 136–175UCSCWD domain, G-beta repeat

WD40aa 179–217UCSCWD domain, G-beta repeat

WD40aa 225–262UCSCWD domain, G-beta repeat

WD40aa 310–350UCSCWD domain, G-beta repeat

WD40aa 358–390UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat domain 1

HGNC Alias Symbol

AIP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_017491.5

p.D77V

c.230A>T

Surrounding Variants

1 paper

NM_017491.5

p.W85R

c.253T>C

1 paper

NM_017491.5

p.K95delFs

c.283_284delTT

1 paper

NM_017491.5

p.Y96F

c.287A>T

1 paper

NM_017491.5

p.Y98H

c.292T>C

1 paper

NM_017491.5

p.K106E

c.316A>G

1 paper

NM_017491.5

p.V119M

c.355G>A

2 papers

NM_017491.5

p.V119V

c.357G>A

3 papers

NM_017491.5

p.G121R

c.361G>C

3 papers

NM_017491.5

p.G121R

c.361G>A

1 paper

NM_017491.5

p.K126Splc

c.378-46A>T

1 paper

NM_017491.5

p.G136C

c.406G>T

1 paper

NM_017491.5

p.I142V

c.424A>G