Varaico: Literature-Extracted Genetic Variants

Gene:KLHDC7B

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
1–12 of 39 variants
4 papers
NM_138433.5
p.V1145M
c.3433G>A
2 papers
NM_138433.5
p.P112L
c.335C>T
2 papers
NM_138433.5
p.A586_T602del0
c.1757_1804del48
1 paper
NM_138433.5
p.A109S
c.325G>T
1 paper
NM_138433.5
p.G164G
c.492C>A
1 paper
NM_138433.5
p.G227V
c.680G>T
1 paper
NM_138433.5
p.R232R
c.694C>A
1 paper
NM_138433.5
p.R232W
c.694C>T
1 paper
NM_138433.5
p.A255V
c.764C>T
1 paper
NM_138433.5
p.G265W
c.793G>T
1 paper
NM_138433.5
p.L359V
c.1075C>G
1 paper
NM_138433.5
p.A387V
c.1160C>T
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