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

1 paper

NM_017491.5

p.F9L

c.27C>G

Surrounding Variants

1 paper

NM_017491.5

p.F9L

c.27C>A

1 paper

NM_017491.5

p.F9L

c.25T>C

1 paper

NM_017491.5

p.F9I

c.25T>A

1 paper

NM_017491.5

p.K7R

c.20A>G

1 paper

NM_017491.5

p.K6R

c.17A>G

1 paper

NM_017491.5

p.I23F

c.67A>T

1 paper

NM_017491.5

p.I23V

c.67A>G

1 paper

NM_017491.5

p.G24S

c.70G>A

3 papers

NM_017491.5

p.D26N

c.76G>A

1 paper

NM_017491.5

p.Y34F

c.101A>T

1 paper

NM_017491.5

p.N36D

c.106A>G

1 paper

NM_017491.5

p.L42I

c.124C>A