Varaico: Literature-Extracted Genetic Variants

Gene:CFAP99
Variant:p.H527R

CFAP99

36 papers

Pfam Domains

CFAP99_CCaa 300–431UCSCCFAP99 V-shaped coiled-coil domain

Gene Aliases

HGNC Name

cilia and flagella associated protein 99

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001193282.4
p.H527R
c.1580A>G
Surrounding Variants
1 paper
NM_001193282.4
p.E532D
c.1596A>C
1 paper
NM_001193282.4
p.E532D
c.1596A>T
1 paper
NM_001193282.4
p.R519W
c.1555C>T
1 paper
NM_001193282.4
p.S541S
c.1623G>A
1 paper
NM_001193282.4
p.A505G
c.1514C>G
1 paper
NM_001193282.4
p.D482N
c.1444G>A
1 paper
NM_001193282.4
p.Q473Q
c.1419G>A
1 paper
NM_001193282.4
p.L470L
c.1410C>T
1 paper
NM_001193282.4
p.I439I
c.1317C>T
1 paper
NM_001193282.4
p.R431*
c.1291C>T
2 papers
NM_001193282.4
p.E411Q
c.1231G>C
1 paper
NM_001193282.4
p.W555*
c.1664G>A
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