Varaico: Literature-Extracted Genetic Variants

Gene:ELFN1

ELFN1

64 papers

Pfam Domains

LRR_8aa 84–144UCSCLeucine rich repeat
LRR_8aa 136–192UCSCLeucine rich repeat
Fn3_ELFNaa 316–400UCSCELFN1/ELFN2, fibronectin type-III domain

Gene Aliases

HGNC Name

extracellular leucine rich repeat and fibronectin type III domain containing 1

HGNC Previous Symbol

PPP1R28

Papers
RefSeq ID
Protein change
DNA change
1–12 of 85 variants
4 papers
NM_001128636.4
p.R650C
c.1948C>T
4 papers
NM_001128636.4
p.D678N
c.2032G>A
3 papers
NM_001128636.4
p.A14_T17delFs
c.42_49del8
3 papers
NM_001128636.4
p.A15fs
c.43_44fs
3 papers
NM_001128636.4
p.R691W
c.2071C>T
2 papers
NM_001128636.4
p.P50H
c.149C>A
2 papers
NM_001128636.4
p.R203H
c.608G>A
2 papers
NM_001128636.4
p.A481V
c.1442C>T
2 papers
NM_001128636.4
p.A688A
c.2064C>T
1 paper
NM_001128636.4
p.A8T
c.22G>A
1 paper
NM_001128636.4
p.A21T
c.61G>A
1 paper
NM_001128636.4
p.R26C
c.76C>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."