Varaico: Literature-Extracted Genetic Variants

Gene:SHLD2
Variant:p.E288V

SHLD2

46 papers

Pfam Domains

SHLD2_OB1aa 423–559UCSCShieldin complex subunit 2, first OB fold domain
OB_SHLD2_2ndaa 591–659UCSCShieldin complex subunit 2, second OB fold domain
SHLD2_Caa 660–823UCSCShieldin complex subunit 2, C-terminal

Gene Aliases

HGNC Name

shieldin complex subunit 2

HGNC Previous Symbol

FAM35A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001330112.2
p.E288V
c.863A>T
Surrounding Variants
1 paper
NM_001330112.2
p.I285I
c.855A>T
1 paper
NM_001330112.2
p.S279G
c.835A>G
1 paper
NM_001330112.2
p.A299delFs
c.895_896delGC
2 papers
NM_001330112.2
p.M272V
c.814A>G
1 paper
NM_001330112.2
p.N271_M272insTA
c.811_815ins6
1 paper
NM_001330112.2
p.N271_M272delFs
c.813_814delCA
1 paper
NM_001330112.2
p.V270I
c.808G>A
1 paper
NM_001330112.2
p.V316G
c.947T>G
1 paper
NM_001330112.2
p.E321delFs
c.963delA
1 paper
NM_001330112.2
p.I246V
c.736A>G
2 papers
NM_001330112.2
p.T240K
c.719C>A
1 paper
NM_001330112.2
p.T240I
c.719C>T
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