Varaico: Literature-Extracted Genetic Variants

WDR36

99 papers

RefSeq Summary

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may fac...

Pfam Domains

Beta-prop_WDR36-Utp21_1staa 42–307UCSCWDR36/Utp21 first beta-propeller

Beta-prop_WDR36-Utp21_2ndaa 327–661UCSCWDR36/Utp21 second beta-propeller domain

Utp21aa 689–891UCSCUtp21 specific WD40 associated putative domain

Gene Aliases

HGNC Name

WD repeat domain 36

HGNC Previous Symbol

GLC1G

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_139281.3

p.G540V

c.1619G>T

Surrounding Variants

1 paper

NM_139281.3

p.L543S

c.1628T>C

1 paper

NM_139281.3

p.S549G

c.1645A>G

2 papers

NM_139281.3

p.S549N

c.1646G>A

2 papers

NM_139281.3

p.S536Splc

c.1607+89C>A

1 paper

NM_139281.3

p.S485F

c.1454C>T

1 paper

NM_139281.3

p.H482Y

c.1444C>T

1 paper

NM_139281.3

p.A481Splc

c.1441+91A>G

4 papers

NM_139281.3

p.A481Splc

c.1441+89G>A

1 paper

NM_139281.3

p.V464A

c.1391T>C

1 paper

NM_139281.3

p.C449Y

c.1346G>A

3 papers

NM_139281.3

p.A443G

c.1328C>G

1 paper

NM_139281.3

p.T442_A443Splc

c.1327-39G>A