Varaico: Literature-Extracted Genetic Variants

Gene:FAM50B
Variant:p.A55D

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.A55D
c.164C>A
Surrounding Variants
1 paper
NM_012135.3
p.A55T
c.163G>A
1 paper
NM_012135.3
p.K47*
c.139A>T
2 papers
NM_012135.3
p.R34H
c.101G>A
1 paper
NM_012135.3
p.R25W
c.73C>T
1 paper
NM_012135.3
p.R91C
c.271C>T
1 paper
NM_012135.3
p.K19*
c.55A>T
1 paper
NM_012135.3
p.R13H
c.38G>A
3 papers
NM_012135.3
p.R98Q
c.293G>A
1 paper
NM_012135.3
p.S118F
c.353C>T
1 paper
NM_012135.3
p.L120M
c.358C>A
1 paper
NM_012135.3
p.R138H
c.413G>A
1 paper
NM_012135.3
p.A139T
c.415G>A
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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."