Varaico: Literature-Extracted Genetic Variants

Gene:PAMR1
Variant:p.E72K

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.E72K
c.214G>A
Surrounding Variants
1 paper
NM_001001991.3
p.C53C
c.159C>T
1 paper
NM_001001991.3
p.C45Y
c.134G>A
1 paper
NM_001001991.3
p.R43W
c.127C>T
1 paper
NM_001001991.3
p.E25Splc
c.74-8C>T
1 paper
NM_001001991.3
p.G100R
c.298G>C
1 paper
NM_001001991.3
p.G101C
c.301G>T
1 paper
NM_001001991.3
p.G101fs
c.301_302fs
1 paper
NM_001001991.3
p.T102fs
c.304_305fs
1 paper
NM_001001991.3
p.C113Y
c.338G>A
1 paper
NM_001001991.3
p.W120R
c.358T>A
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