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

1–12 of 114 variants

8 papers

NM_017491.5

p.L293F

c.877C>T

5 papers

NM_017491.5

p.I185V

c.553A>G

4 papers

NM_017491.5

p.H248R

c.743A>G

3 papers

NM_017491.5

p.D26N

c.76G>A

3 papers

NM_017491.5

p.G121R

c.361G>C

3 papers

NM_017491.5

p.G121R

c.361G>A

3 papers

NM_017491.5

p.L286V

c.856C>G

2 papers

NM_017491.5

p.V61A

c.182T>C

2 papers

NM_017491.5

p.D77V

c.230A>T

2 papers

NM_017491.5

p.V119V

c.357G>A

2 papers

NM_017491.5

p.H145Q

c.435C>G

2 papers

NM_017491.5

p.H145Q

c.435C>A