Varaico: Literature-Extracted Genetic Variants

Gene:SHLD2
Variant:p.L404delFs

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.L404delFs
c.1211delT
Surrounding Variants
1 paper
NM_001330112.2
p.L404*
c.1211T>A
1 paper
NM_001330112.2
p.R394T
c.1181G>C
1 paper
NM_001330112.2
p.S389C
c.1166C>G
1 paper
NM_001330112.2
p.R378S
c.1134A>C
1 paper
NM_001330112.2
p.R378S
c.1134A>T
1 paper
NM_001330112.2
p.K438E
c.1312A>G
1 paper
NM_001330112.2
p.L449L
c.1345C>T
1 paper
NM_001330112.2
p.S339T
c.1015T>A
2 papers
NM_001330112.2
p.S339A
c.1015T>G
1 paper
NM_001330112.2
p.E321delFs
c.963delA
1 paper
NM_001330112.2
p.V486A
c.1457T>C
1 paper
NM_001330112.2
p.W489L
c.1466G>T
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