Varaico: Literature-Extracted Genetic Variants

Gene:PAMR1
Variant:p.C442C

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.C442C
c.1326C>T
Surrounding Variants
1 paper
NM_001001991.3
p.P440L
c.1319C>T
1 paper
NM_001001991.3
p.T408_I415delFs
c.1222_1244del23
1 paper
NM_001001991.3
p.Q409Q
c.1227G>A
1 paper
NM_001001991.3
p.Q409K
c.1225C>A
1 paper
NM_001001991.3
p.T408fs
c.1222_1223fs
1 paper
NM_001001991.3
p.F396delFs
c.1187delA
1 paper
NM_001001991.3
p.A393T
c.1177G>A
1 paper
NM_001001991.3
p.Q373Q
c.1119G>A
1 paper
NM_001001991.3
p.G474R
c.1420G>C
1 paper
NM_001001991.3
p.G474R
c.1420G>A
1 paper
NM_001001991.3
p.D477D
c.1431C>T
1 paper
NM_001001991.3
p.G483E
c.1448G>A
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