Varaico: Literature-Extracted Genetic Variants

Gene:SHLD1
Variant:p.E90E

SHLD1

25 papers

Pfam Domains

SHLD1_Caa 84–203UCSCShieldin complex subunit 1, C-terminal domain

Gene Aliases

HGNC Name

shieldin complex subunit 1

HGNC Previous Symbol

C20orf196

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152504.4
p.E90E
c.270A>G
Surrounding Variants
1 paper
NM_152504.4
p.E91insFs
c.271_272insTA
1 paper
NM_152504.4
p.R96Q
c.287G>A
1 paper
NM_152504.4
p.S98A
c.292T>G
1 paper
NM_152504.4
p.S98delFs
c.293delC
1 paper
NM_152504.4
p.V83insFs
c.247_248insT
1 paper
NM_152504.4
p.A82_V83insFs
c.246_247insCA
1 paper
NM_152504.4
p.A82_V83insFs
c.246_247insG
1 paper
NM_152504.4
p.A82fs
c.244_245fs
1 paper
NM_152504.4
p.Y103F
c.308A>T
1 paper
NM_152504.4
p.F77_P81insFs
c.230_243dup14
1 paper
NM_152504.4
p.G107V
c.320G>T
2 papers
NM_152504.4
p.G107G
c.321T>C
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