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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFAP47

Variant:p.P2890T

CFAP47

129 papers

RefSeq Summary

While this gene is well-supported by transcript data, no functional information on its protein product is currently available. [provided by RefSeq, Dec 2009].

Pfam Domains

CFAP47aa 1576–1716UCSCCilia- and flagella-associated protein 47 domain

Ig_CFAP47aa 2890–3032UCSCCFAP47-like, immunoglobulin-like domain

Gene Aliases

HGNC Name

cilia and flagella associated protein 47

HGNC Previous Symbols

CXorf59; CXorf22; CXorf30; CHDC2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

4 papers

chrX:36350102 C>A

NM_001304548.2

p.P2890T

c.8668C>A

Ig_CFAP47

Exome: 0.0% (AC=2, hom=0)Genome: n/a54 overlapping SVs

Surrounding Variants

2 papers

chrX:36350051 G>A

NM_001304548.2

p.D2873N

c.8617G>A

Exome: 0.1% (AC=1227, hom=12)Genome: 0.3% (AC=348, hom=2)54 overlapping SVs

1 paper

chrX:36353604 T>A

NM_001304548.2

p.F2925Y

c.8774T>A

Ig_CFAP47

Exome: 9.1% (AC=95766, hom=3494)Genome: 10.6% (AC=11794, hom=513)54 overlapping SVs

1 paper

chrX:36353616 C>A

NM_001304548.2

p.P2929Q

c.8786C>A

Ig_CFAP47

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=2, hom=0)54 overlapping SVs

1 paper

chrX:36353635 A>G

NM_001304548.2

p.L2935L

c.8805A>G

Ig_CFAP47

exact variant not in gnomAD54 overlapping SVs

1 paper

chrX:36353642 C>T

NM_001304548.2

p.P2938S

c.8812C>T

Ig_CFAP47

exact variant not in gnomAD54 overlapping SVs

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