Varaico: Literature-Extracted Genetic Variants

Gene:KLHDC7B
Variant:p.V1145M

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
4 papers
NM_138433.5
p.V1145M
c.3433G>A
Surrounding Variants
1 paper
NM_138433.5
p.W1159R
c.3475T>C
1 paper
NM_138433.5
p.R1030delFs
c.3088delC
1 paper
NM_138433.5
p.E815K
c.2443G>A
1 paper
NM_138433.5
p.C777S
c.2330G>C
1 paper
NM_138433.5
p.C777S
c.2329T>A
1 paper
NM_138433.5
p.V659I
c.1975G>A
1 paper
NM_138433.5
p.S599insFs
c.1796dupC
1 paper
NM_138433.5
p.S599fs
c.1795_1796fs
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.P595L
c.1784C>T
1 paper
NM_138433.5
p.S592T
c.1774T>A
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