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.W635Splc

c.1904+32T>G

Surrounding Variants

1 paper

NM_139281.3

p.W635Splc

c.1904+59A>C

1 paper

NM_139281.3

p.Y633F

c.1898A>T

1 paper

NM_139281.3

p.C599Splc

c.1797-28A>G

4 papers

NM_139281.3

p.C599Splc

c.1797-30A>G

1 paper

NM_139281.3

p.I657V

c.1969A>G

1 paper

NM_139281.3

p.D668Splc

c.2002+35T>G

1 paper

NM_139281.3

p.D668Splc

c.2002+217C>T

1 paper

NM_139281.3

p.V676I

c.2026G>A

1 paper

NM_139281.3

p.S687L

c.2060C>T

1 paper

NM_139281.3

p.L691_N692insAG

c.2071_2075ins6

1 paper

NM_139281.3

p.E693G

c.2078A>G

1 paper

NM_139281.3

p.S704*

c.2111C>G