Varaico: Literature-Extracted Genetic Variants

Gene:FAM200B
Variant:p.K161delFs

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.K161delFs
c.481delA
Surrounding Variants
1 paper
NM_001145191.2
p.I170fs
c.508_509fs
1 paper
NM_001145191.2
p.A174P
c.520G>C
1 paper
NM_001145191.2
p.K186E
c.556A>G
2 papers
NM_001145191.2
p.R203Q
c.608G>A
1 paper
NM_001145191.2
p.L114I
c.340C>A
1 paper
NM_001145191.2
p.E113*
c.337G>T
1 paper
NM_001145191.2
p.E96Q
c.286G>C
1 paper
NM_001145191.2
p.I88T
c.263T>C
1 paper
NM_001145191.2
p.D234H
c.700G>C
1 paper
NM_001145191.2
p.K55*
c.163A>T
1 paper
NM_001145191.2
p.K54insFs
c.161_162ins28
1 paper
NM_001145191.2
p.E36D
c.108G>C
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