Varaico: Literature-Extracted Genetic Variants

Gene:WDR90
Variant:p.M590I

WDR90

111 papers

Pfam Domains

CFA20_domaa 1–192UCSCCFA20 domain
Beta-prop_WDR90_POC16_2ndaa 707–997UCSCWDR90/POC16, second beta-propeller
WD40aa 1149–1192UCSCWD domain, G-beta repeat
WD40aa 1196–1235UCSCWD domain, G-beta repeat
WDR90_beta-prop_4thaa 1437–1747UCSCWDR90, 4th beta-propeller

Gene Aliases

HGNC Name

WD repeat domain 90

HGNC Previous Symbols

C16orf17; C16orf15; C16orf16; C16orf19; C16orf18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145294.5
p.M590I
c.1770G>T
Surrounding Variants
1 paper
NM_145294.5
p.M590I
c.1770G>A
1 paper
NM_145294.5
p.M590I
c.1770G>C
2 papers
NM_145294.5
p.R596C
c.1786C>T
1 paper
NM_145294.5
p.G606S
c.1816G>A
1 paper
NM_145294.5
p.P607L
c.1820C>T
1 paper
NM_145294.5
p.S624S
c.1872C>T
1 paper
NM_145294.5
p.L625fs
c.1873_1874fs
1 paper
NM_145294.5
p.A557D
c.1670C>A
1 paper
NM_145294.5
p.F648_S649del2
c.1942_1946del6
1 paper
NM_145294.5
p.F648_S649del1
c.1944_1946delCTC
1 paper
NM_145294.5
p.V543M
c.1627G>A
1 paper
NM_145294.5
p.R539H
c.1616G>A
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