Varaico: Literature-Extracted Genetic Variants

Gene:PAMR1
Variant:p.W152*

PAMR1

54 papers

Pfam Domains

CUBaa 88–193UCSCCUB domain
EGFaa 199–230UCSCEGF-like domain
Sushiaa 240–302UCSCSushi repeat (SCR repeat)
Sushiaa 350–402UCSCSushi repeat (SCR repeat)
Trypsinaa 412–675UCSCTrypsin

Gene Aliases

HGNC Name

peptidase domain containing associated with muscle regeneration 1

HGNC Alias Symbol

DKFZP586H2123

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001001991.3
p.W152*
c.455G>A
Surrounding Variants
1 paper
NM_001001991.3
p.W152*
c.456G>A
1 paper
NM_001001991.3
p.C150G
c.448T>G
1 paper
NM_001001991.3
p.P145L
c.434C>T
1 paper
NM_001001991.3
p.E142Q
c.424G>C
2 papers
NM_001001991.3
p.Q163R
c.488A>G
1 paper
NM_001001991.3
p.R133*
c.397C>T
1 paper
NM_001001991.3
p.S170T
c.509G>C
1 paper
NM_001001991.3
p.I194I
c.582C>A
1 paper
NM_001001991.3
p.I195T
c.584T>C
1 paper
NM_001001991.3
p.K196M
c.587A>T
1 paper
NM_001001991.3
p.K224*
c.670A>T
1 paper
NM_001001991.3
p.H230L
c.689A>T
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