Varaico: Literature-Extracted Genetic Variants

Gene:SHOC1
Variant:p.C449*

SHOC1

46 papers

Pfam Domains

DUF5587aa 1–1444UCSCFamily of unknown function (DUF5587)
DUF5587aa 40–608UCSCFamily of unknown function (DUF5587)
DUF5587aa 607–1370UCSCFamily of unknown function (DUF5587)

Gene Aliases

HGNC Name

shortage in chiasmata 1

HGNC Previous Symbol

C9orf84

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001378211.1
p.C449*
c.1347T>A
Surrounding Variants
2 papers
NM_001378211.1
p.D451delFs
c.1351delC
1 paper
NM_001378211.1
p.M438delFs
c.1313_1314delCA
1 paper
NM_173521.5
p.I398delFs
c.1194delT
1 paper
NM_173521.5
p.L400fs
c.1198_1199fs
5 papers
NM_173521.5
p.E362delFs
c.1085_1086delCT
NM_001378211.1
p.E426delFs
c.1277_1278delCT
1 paper
NM_001378211.1
p.E426fs
c.1276_1277fs
1 paper
NM_001378211.1
p.I420insFs
c.1259_1260insTT
1 paper
NM_001378211.1
p.L418insFs
c.1253dupT
1 paper
NM_001378211.1
p.S403S
c.1209A>C
2 papers
NM_001378211.1
p.H399delFs
c.1195delG
1 paper
NM_001378211.1
p.Q396*
c.1186C>T
1 paper
NM_001378211.1
p.P384L
c.1151C>T
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