Varaico: Literature-Extracted Genetic Variants

Gene:FAM200A
Variant:p.S46L

FAM200A

33 papers

RefSeq Summary

This gene encodes a protein of unknown function. The protein is weakly similar to transposase-like proteins in human and mouse. [provided by RefSeq, Jul 2008].

Pfam Domains

FAM200-ZBED5_RNase-likeaa 56–231UCSCFAM200/ZBED5 RNase-like
FAM200-GTF2IRD2-likeaa 240–390UCSCFAM200/GTF2IRD2 RNase-like helical

Gene Aliases

HGNC Name

family with sequence similarity 200 member A

HGNC Previous Symbol

C7orf38

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_145111.4
p.S46L
c.137C>T
Surrounding Variants
1 paper
NM_145111.4
p.L50_S51insCT
c.148_152ins6
2 papers
NM_145111.4
p.H35R
c.104A>G
1 paper
NM_145111.4
p.L61*
c.182T>G
1 paper
NM_145111.4
p.V23M
c.67G>A
1 paper
NM_145111.4
p.Q17insFs
c.50_51insCT
1 paper
NM_145111.4
p.Q17fs
c.49_50fs
1 paper
NM_145111.4
p.G15fs
c.43_44fs
1 paper
NM_145111.4
p.G15fs
c.43_44fs
3 papers
NM_145111.4
p.P13delFs
c.39delT
1 paper
NM_145111.4
p.P13fs
c.37_38fs
1 paper
NM_145111.4
p.I84fs
c.250_251fs
1 paper
NM_145111.4
p.R118P
c.353G>C
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