Varaico: Literature-Extracted Genetic Variants

Gene:SHOC1
Variant:p.I231_E232del2

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
3 papers
NM_173521.5
p.I231_E232del2
c.691_695del6
Surrounding Variants
1 paper
NM_001378211.1
p.L289_T290del2
c.865_869del6
1 paper
NM_001378211.1
p.T290S
c.869C>G
1 paper
NM_173521.5
p.T226insFs
c.676dupA
1 paper
NM_001378211.1
p.T290S
c.868A>T
1 paper
NM_001378211.1
p.T310P
c.928A>C
2 papers
NM_001378211.1
p.S315_E316delFs
c.945_948del4
1 paper
NM_001378211.1
p.P317L
c.950C>T
1 paper
NM_001378211.1
p.P323delFs
c.968_969delTG
1 paper
NM_173521.5
p.L266fs
c.796_797fs
3 papers
NM_173521.5
p.L266delFs
c.797delA
NM_001378211.1
p.L330delFs
c.989delA
1 paper
NM_001378211.1
p.P332S
c.994C>T
1 paper
NM_001378211.1
p.R346H
c.1037G>A
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