Varaico: Literature-Extracted Genetic Variants

Gene:SHOC1
Variant:p.Q377*

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
1 paper
NM_001378211.1
p.Q377*
c.1129C>T
Surrounding Variants
1 paper
NM_001378211.1
p.W376delFs
c.1126delA
1 paper
NM_001378211.1
p.M374fs
c.1120_1121fs
4 papers
NM_173521.5
p.E315_R316delFs
c.945_948del4
NM_001378211.1
p.E379_R380delFs
c.1137_1140del4
1 paper
NM_001378211.1
p.R380_C381delFs
c.1140_1143del4
1 paper
NM_001378211.1
p.P384L
c.1151C>T
5 papers
NM_001378211.1
p.L362delFs
c.1085_1086delCA
1 paper
NM_001378211.1
p.Q396*
c.1186C>T
2 papers
NM_001378211.1
p.H399delFs
c.1195delG
1 paper
NM_001378211.1
p.S403S
c.1209A>C
1 paper
NM_001378211.1
p.L418insFs
c.1253dupT
1 paper
NM_001378211.1
p.I420insFs
c.1259_1260insTT
1 paper
NM_001378211.1
p.E426fs
c.1276_1277fs
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