Varaico: Literature-Extracted Genetic Variants

Gene:SHOC1

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
1–12 of 159 variants
6 papers
NM_001378211.1
p.S77_F78delFs
c.231_232delAA
5 papers
NM_001378211.1
p.T231_I232del2
c.691_695del6
5 papers
NM_001378211.1
p.L362delFs
c.1085_1086delCA
4 papers
NM_001378211.1
p.D488delFs
c.1464delA
4 papers
NM_001378211.1
p.T1085_S1086del2
c.3253_3257del6
3 papers
NM_173521.5
p.A77_L78delFs
c.231_232delGT
3 papers
NM_173521.5
p.I231_E232del2
c.691_695del6
3 papers
NM_173521.5
p.E315_R316delFs
c.945_948del4
3 papers
NM_173521.5
p.E362delFs
c.1085_1086delCT
2 papers
NM_173521.5
p.L78fs
c.232_233fs
2 papers
NM_001378211.1
p.K220N
c.660A>T
2 papers
NM_001378211.1
p.S315_E316delFs
c.945_948del4
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."