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.I142V

c.424A>G

Surrounding Variants

1 paper

NM_017491.5

p.E141_I142delFs

c.423_424delTC

2 papers

NM_017491.5

p.H145Q

c.435C>G

2 papers

NM_017491.5

p.H145Q

c.435C>A

1 paper

NM_017491.5

p.G136C

c.406G>T

1 paper

NM_017491.5

p.D168H

c.502G>C

1 paper

NM_017491.5

p.D168A

c.503A>C

1 paper

NM_017491.5

p.C170C

c.510C>T

2 papers

NM_017491.5

p.A171T

c.511G>A

1 paper

NM_017491.5

p.A171V

c.512C>T

1 paper

NM_017491.5

p.A172T

c.514G>A

1 paper

NM_017491.5

p.K126Splc

c.378-46A>T

1 paper

NM_017491.5

p.G176R

c.526G>A