Varaico: Literature-Extracted Genetic Variants

Gene:DAW1
Variant:p.R216_G217Splc

DAW1

50 papers

Pfam Domains

WD40aa 82–120UCSCWD domain, G-beta repeat
WD40aa 124–163UCSCWD domain, G-beta repeat
WD40aa 167–205UCSCWD domain, G-beta repeat
WD40aa 209–247UCSCWD domain, G-beta repeat
WD40aa 251–289UCSCWD domain, G-beta repeat
WD40aa 293–331UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

dynein assembly factor with WD repeats 1

HGNC Previous Symbol

WDR69

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_178821.3
p.R216_G217Splc
c.648+1G>A
Surrounding Variants
1 paper
NM_178821.3
p.E211K
c.631G>A
1 paper
NM_178821.3
p.S184P
c.550T>C
1 paper
NM_178821.3
p.G217A
c.650G>C
1 paper
NM_178821.3
p.E221K
c.661G>A
1 paper
NM_178821.3
p.G259S
c.775G>A
1 paper
NM_178821.3
p.H260D
c.778C>G
1 paper
NM_178821.3
p.C261R
c.781T>C
1 paper
NM_178821.3
p.C285delFs
c.855delC
1 paper
NM_178821.3
p.C285*
c.855C>A
1 paper
NM_178821.3
p.K286_L287Splc
c.859-2A>T
1 paper
NM_178821.3
p.L287M
c.859C>A
1 paper
NM_178821.3
p.L317F
c.949C>T
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