Varaico: Literature-Extracted Genetic Variants

Gene:SHLD1
Variant:p.K128R

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.K128R
c.383A>G
Surrounding Variants
1 paper
NM_152504.4
p.Q127L
c.380A>T
1 paper
NM_152504.4
p.Q135L
c.404A>T
1 paper
NM_152504.4
p.A119V
c.356C>T
3 papers
NM_152504.4
p.R143C
c.427C>T
1 paper
NM_152504.4
p.P111S
c.331C>T
2 papers
NM_152504.4
p.G107G
c.321T>C
1 paper
NM_152504.4
p.G107V
c.320G>T
1 paper
NM_152504.4
p.V150A
c.449T>C
1 paper
NM_152504.4
p.Y103F
c.308A>T
1 paper
NM_152504.4
p.R154Q
c.461G>A
1 paper
NM_152504.4
p.D155A
c.464A>C
1 paper
NM_152504.4
p.S98A
c.292T>G
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