Varaico: Literature-Extracted Genetic Variants

Gene:SHLD2
Variant:p.L211S

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.L211S
c.632T>C
Surrounding Variants
1 paper
NM_001330112.2
p.L211*
c.632T>A
1 paper
NM_001330112.2
p.N208insFs
c.623dupA
1 paper
NM_001330112.2
p.K235N
c.705A>T
1 paper
NM_001330112.2
p.K186N
c.558A>T
1 paper
NM_001330112.2
p.T184I
c.551C>T
2 papers
NM_001330112.2
p.T240K
c.719C>A
1 paper
NM_001330112.2
p.T240I
c.719C>T
1 paper
NM_001330112.2
p.I246V
c.736A>G
1 paper
NM_001330112.2
p.Q169*
c.505C>T
1 paper
NM_001330112.2
p.C159Y
c.476G>A
1 paper
NM_001330112.2
p.V270I
c.808G>A
1 paper
NM_001330112.2
p.N271_M272insTA
c.811_815ins6
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