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.L879P

c.2636T>C

Surrounding Variants

1 paper

NM_139281.3

p.S883G

c.2647A>G

1 paper

NM_139281.3

p.A893S

c.2677G>T

1 paper

NM_139281.3

p.K846_L847Splc

c.2539-65T>C

1 paper

NM_139281.3

p.Y784Splc

c.2351-8T>G

3 papers

NM_139281.3

p.Y784Splc

c.2351-23A>G

4 papers

NM_139281.3

p.Y784Splc

c.2351-75G>A

3 papers

NM_139281.3

p.Y784Splc

c.2350+60G>C

6 papers

NM_139281.3

p.V727V

c.2181A>T

1 paper

NM_139281.3

p.P728delFs

c.2184delC

1 paper

NM_139281.3

p.S704*

c.2111C>G

1 paper

NM_139281.3

p.E693G

c.2078A>G

1 paper

NM_139281.3

p.L691_N692insAG

c.2071_2075ins6