Varaico: Literature-Extracted Genetic Variants

Gene:SHLD2
Variant:p.L676W

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.L676W
c.2027T>G
Surrounding Variants
1 paper
NM_001330112.2
p.L674L
c.2022A>T
1 paper
NM_001330112.2
p.S683C
c.2048C>G
1 paper
NM_001330112.2
p.Q666*
c.1996C>T
1 paper
NM_001330112.2
p.E659E
c.1977A>G
1 paper
NM_001330112.2
p.A705T
c.2113G>A
1 paper
NM_001330112.2
p.A746V
c.2237C>T
1 paper
NM_001330112.2
p.L773F
c.2319G>C
1 paper
NM_001330112.2
p.L773F
c.2319G>T
1 paper
NM_001330112.2
p.W640L
c.1919G>T
1 paper
NM_001330112.2
p.L639L
c.1915T>C
1 paper
NM_001330112.2
p.L625I
c.1873T>A
1 paper
NM_001330112.2
p.D593V
c.1778A>T
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