Varaico: Literature-Extracted Genetic Variants

Gene:BYSL

BYSL

49 papers

RefSeq Summary

Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds d...

Pfam Domains

Bystinaa 141–431UCSCBystin

Gene Aliases

HGNC Name

bystin like

HGNC Alias Symbol

Enp1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
6 papers
NM_004053.4
p.E103K
c.307G>A
4 papers
NM_004053.4
p.I216V
c.646A>G
4 papers
NM_004053.4
p.P426S
c.1276C>T
2 papers
NM_004053.4
p.L69F
c.205C>T
2 papers
NM_004053.4
p.E130V
c.389A>T
2 papers
NM_004053.4
p.A246T
c.736G>A
2 papers
NM_004053.4
p.R303Q
c.908G>A
1 paper
NM_004053.4
p.A7delFs
c.19delG
1 paper
NM_004053.4
p.E14K
c.40G>A
1 paper
NM_004053.4
p.E14fs
c.40_41fs
1 paper
NM_004053.4
p.E14delFs
c.41delA
1 paper
NM_004053.4
p.I58I
c.174T>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."