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

4 papers

NM_017491.5

p.H248R

c.743A>G

Surrounding Variants

1 paper

NM_017491.5

p.T247N

c.740C>A

1 paper

NM_017491.5

p.D245H

c.733G>C

1 paper

NM_017491.5

p.V263I

c.787G>A

1 paper

NM_017491.5

p.V268M

c.802G>A

1 paper

NM_017491.5

p.S276F

c.827C>T

1 paper

NM_017491.5

p.L283_G284del1

c.849_851delCCC

1 paper

NM_017491.5

p.L283_G284del2

c.847_851del6

3 papers

NM_017491.5

p.L286V

c.856C>G

8 papers

NM_017491.5

p.L293F

c.877C>T

NM_005112.5

p.L153F

c.457C>T

1 paper

NM_017491.5

p.S296F

c.887C>T

1 paper

NM_017491.5

p.A239_I240Splc

c.717+10A>T

2 papers

NM_017491.5

p.Y238F

c.713A>T