Varaico: Literature-Extracted Genetic Variants

Gene:FAM200B
Variant:p.K413delFs

FAM200B

27 papers

Pfam Domains

FAM200-ZBED5_RNase-likeaa 142–316UCSCFAM200/ZBED5 RNase-like
FAM200-GTF2IRD2-likeaa 325–475UCSCFAM200/GTF2IRD2 RNase-like helical

Gene Aliases

HGNC Name

family with sequence similarity 200 member B

HGNC Alias Symbol

C4orf53

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001145191.2
p.K413delFs
c.1239delA
Surrounding Variants
1 paper
NM_001145191.2
p.K413fs
c.1237_1238fs
2 papers
NM_001145191.2
p.W425*
c.1274G>A
2 papers
NM_001145191.2
p.W425*
c.1275G>A
1 paper
NM_001145191.2
p.L429*
c.1286T>A
2 papers
NM_001145191.2
p.S443N
c.1328G>A
1 paper
NM_001145191.2
p.E372*
c.1114G>T
1 paper
NM_001145191.2
p.R364Q
c.1091G>A
1 paper
NM_001145191.2
p.G462*
c.1384G>T
4 papers
NM_001145191.2
p.H545N
c.1633C>A
1 paper
NM_001145191.2
p.V555L
c.1663G>C
1 paper
NM_001145191.2
p.V555L
c.1663G>T
1 paper
NM_001145191.2
p.D234H
c.700G>C
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