Varaico: Literature-Extracted Genetic Variants

Gene:KLHDC7B
Variant:p.S592T

KLHDC7B

30 papers

Pfam Domains

Kelch_1aa 343–392UCSCKelch motif
Kelch_1aa 394–435UCSCKelch motif
Kelch_1aa 984–1033UCSCKelch motif
Kelch_1aa 1035–1076UCSCKelch motif

Gene Aliases

HGNC Name

kelch domain containing 7B

HGNC Alias Symbol

MGC16635

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138433.5
p.S592T
c.1774T>A
Surrounding Variants
1 paper
NM_138433.5
p.A591P
c.1771G>C
1 paper
NM_138433.5
p.P595L
c.1784C>T
1 paper
NM_138433.5
p.T588fs
c.1762_1763fs
1 paper
NM_138433.5
p.A596fs
c.1786_1787fs
1 paper
NM_138433.5
p.A596delFs
c.1788delC
1 paper
NM_138433.5
p.P587_P603delFs
c.1761_1807del47
1 paper
NM_138433.5
p.A586_T602Fs
c.1757_1804delinsGFs
1 paper
NM_138433.5
p.A586_T602Fs
c.1757_1804delinsTFs
1 paper
NM_138433.5
p.A586fs
c.1756_1757fs
1 paper
NM_138433.5
p.A586_P601delFs
c.1757_1803del47
2 papers
NM_138433.5
p.A586_T602del0
c.1757_1804del48
1 paper
NM_138433.5
p.S599insFs
c.1796dupC
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