Varaico: Literature-Extracted Genetic Variants

Gene:PAMR1
Variant:p.D534V

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.D534V
c.1601A>T
Surrounding Variants
1 paper
NM_001001991.3
p.R533W
c.1597C>T
1 paper
NM_001001991.3
p.Q539H
c.1617G>T
1 paper
NM_001001991.3
p.Q539H
c.1617G>C
1 paper
NM_001001991.3
p.L541P
c.1622T>C
2 papers
NM_001001991.3
p.Q542R
c.1625A>G
1 paper
NM_001001991.3
p.L520L
c.1560G>A
1 paper
NM_001001991.3
p.H504Y
c.1510C>T
1 paper
NM_001001991.3
p.V501V
c.1503G>A
1 paper
NM_001001991.3
p.L493L
c.1477C>T
1 paper
NM_001001991.3
p.A492V
c.1475C>T
1 paper
NM_001001991.3
p.A484A
c.1452G>A
1 paper
NM_001001991.3
p.G483E
c.1448G>A
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