Varaico: Literature-Extracted Genetic Variants

Gene:KLHDC7A
Variant:p.G49R

KLHDC7A

93 papers

Pfam Domains

Kelch_1aa 530–576UCSCKelch motif
Kelch_1aa 578–619UCSCKelch motif

Gene Aliases

HGNC Name

kelch domain containing 7A

HGNC Alias Symbol

FLJ38753

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_152375.3
p.G49R
c.145G>C
Surrounding Variants
1 paper
NM_152375.3
p.E70_A71del1
c.209_211delAGG
1 paper
NM_152375.3
p.L76I
c.226C>A
3 papers
NM_152375.3
p.V21L
c.61G>C
3 papers
NM_152375.3
p.V21L
c.61G>T
1 paper
NM_152375.3
p.P80T
c.238C>A
2 papers
NM_152375.3
p.Q16K
c.46C>A
1 paper
NM_152375.3
p.E90K
c.268G>A
1 paper
NM_152375.3
p.A91G
c.272C>G
2 papers
NM_152375.3
p.G94S
c.280G>A
1 paper
NM_152375.3
p.C97fs
c.289_290fs
1 paper
NM_152375.3
p.D114N
c.340G>A
1 paper
NM_152375.3
p.R115S
c.345G>C
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