Varaico: Literature-Extracted Genetic Variants

Gene:PAMR1
Variant:p.D553D

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
2 papers
NM_001001991.3
p.D553D
c.1659C>T
Surrounding Variants
1 paper
NM_001001991.3
p.A559T
c.1675G>A
1 paper
NM_001001991.3
p.D560N
c.1678G>A
1 paper
NM_001001991.3
p.V607G
c.1820T>G
1 paper
NM_001001991.3
p.H634D
c.1900C>G
1 paper
NM_001001991.3
p.G638S
c.1912G>A
1 paper
NM_001001991.3
p.A670T
c.2008G>A
1 paper
NM_001001991.3
p.V671M
c.2011G>A
1 paper
NM_001001991.3
p.P674A
c.2020C>G
2 papers
NM_001001991.3
p.R676*
c.2026C>T
1 paper
NM_001001991.3
p.K712R
c.2135A>G
1 paper
NM_001001991.3
p.D713D
c.2139C>T
2 papers
NM_001001991.3
p.Q542R
c.1625A>G
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