Varaico: Literature-Extracted Genetic Variants

Gene:FAM50B
Variant:p.R221C

FAM50B

26 papers

RefSeq Summary

This gene contains an intronless ORF that arose from ancestral retroposition. The encoded protein is related to a plant protein that plays a role in the circadian clock. This gene is adjacent to a dif...

Pfam Domains

XAP5aa 183–324UCSCXAP5, circadian clock regulator C-terminal domain

Gene Aliases

HGNC Name

family with sequence similarity 50 member B

HGNC Alias Symbols

D6S2654E; X5L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012135.3
p.R221C
c.661C>T
Surrounding Variants
1 paper
NM_012135.3
p.D223E
c.669C>A
1 paper
NM_012135.3
p.D223E
c.669C>G
1 paper
NM_012135.3
p.A216V
c.647C>T
1 paper
NM_012135.3
p.R204H
c.611G>A
1 paper
NM_012135.3
p.E183K
c.547G>A
1 paper
NM_012135.3
p.E178D
c.534G>C
1 paper
NM_012135.3
p.E178D
c.534G>T
1 paper
NM_012135.3
p.G263G
c.789G>C
1 paper
NM_012135.3
p.D272N
c.814G>A
1 paper
NM_012135.3
p.D273fs
c.817_818fs
1 paper
NM_012135.3
p.R166P
c.497G>C
1 paper
NM_012135.3
p.L276L
c.826C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."