Varaico: Literature-Extracted Genetic Variants

Gene:DAW1
Variant:p.L66*

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
4 papers
NM_178821.3
p.L66*
c.197T>A
Surrounding Variants
1 paper
NM_178821.3
p.K64Q
c.190A>C
1 paper
NM_178821.3
p.G75D
c.224G>A
1 paper
NM_178821.3
p.S42G
c.124A>G
1 paper
NM_178821.3
p.T39fs
c.115_116fs
1 paper
NM_178821.3
p.T39_V41delFs
c.115_122del8
1 paper
NM_178821.3
p.S103*
c.308C>A
1 paper
NM_178821.3
p.S103S
c.309G>A
2 papers
NM_178821.3
p.R114Q
c.341G>A
1 paper
NM_178821.3
p.T115M
c.344C>T
3 papers
NM_178821.3
p.W119*
c.356G>A
3 papers
NM_178821.3
p.W119*
c.357G>A
3 papers
NM_178821.3
p.T121S
c.361A>T
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