Varaico: Literature-Extracted Genetic Variants

Gene:SMU1
Variant:p.M425I

SMU1

29 papers

Pfam Domains

LisH_TPLaa 6–36UCSCLisH-like dimerisation domain
WD40aa 204–242UCSCWD domain, G-beta repeat
Beta-prop_IFT122_1staa 263–512UCSCIFT122 first beta-propeller

Gene Aliases

HGNC Name

SMU1 DNA replication regulator and spliceosomal factor

HGNC Alias Symbols

SMU-1; FLJ10805; BWD; fSAP57

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018225.3
p.M425I
c.1275G>C
Surrounding Variants
2 papers
NM_018225.3
p.M425I
c.1275G>T
2 papers
NM_018225.3
p.M425I
c.1275G>A
1 paper
NM_018225.3
p.G395G
c.1185G>A
1 paper
NM_018225.3
p.E382*
c.1144G>T
1 paper
NM_018225.3
p.R346C
c.1036C>T
1 paper
NM_018225.3
p.S314G
c.940A>G
1 paper
NM_018225.3
p.L279I
c.835T>A
1 paper
NM_018225.3
p.D444N
c.1330G>A
1 paper
NM_018225.3
p.D486G
c.1457A>G
1 paper
NM_018225.3
p.G489R
c.1465G>C
1 paper
NM_018225.3
p.P494_Q496del3
c.1480_1487del9
1 paper
NM_018225.3
p.T501P
c.1501A>C
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