Varaico: Literature-Extracted Genetic Variants

Gene:FAM200C
Variant:p.A523S

FAM200C

24 papers

Pfam Domains

FAM200-ZBED5_RNase-likeaa 87–262UCSCFAM200/ZBED5 RNase-like
FAM200-GTF2IRD2-likeaa 270–420UCSCFAM200/GTF2IRD2 RNase-like helical

Gene Aliases

HGNC Name

family with sequence similarity 200 member C

HGNC Previous Symbols

C5orf54; ZBED8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022090.5
p.A523S
c.1567G>T
Surrounding Variants
1 paper
NM_022090.5
p.R499R
c.1497A>T
1 paper
NM_022090.5
p.Y489C
c.1466A>G
1 paper
NM_022090.5
p.D483N
c.1447G>A
1 paper
NM_022090.5
p.I474M
c.1422A>G
1 paper
NM_022090.5
p.Y461C
c.1382A>G
1 paper
NM_022090.5
p.H383N
c.1147C>A
1 paper
NM_022090.5
p.H383fs
c.1147_1148fs
1 paper
NM_022090.5
p.E316fs
c.946_947fs
1 paper
NM_022090.5
p.D289N
c.865G>A
1 paper
NM_022090.5
p.E262fs
c.784_785fs
1 paper
NM_022090.5
p.S247F
c.740C>T
1 paper
NM_022090.5
p.V240L
c.718G>C
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