Varaico: Literature-Extracted Genetic Variants

Gene:ELFN1
Variant:p.R650C

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
Selected Variant
4 papers
NM_001128636.4
p.R650C
c.1948C>T
Surrounding Variants
1 paper
NM_001128636.4
p.V630M
c.1888G>A
1 paper
NM_001128636.4
p.P675H
c.2024C>A
4 papers
NM_001128636.4
p.D678N
c.2032G>A
1 paper
NM_001128636.4
p.A679V
c.2036C>T
2 papers
NM_001128636.4
p.A688A
c.2064C>T
3 papers
NM_001128636.4
p.R691W
c.2071C>T
1 paper
NM_001128636.4
p.R704Q
c.2111G>A
1 paper
NM_001128636.4
p.V591fs
c.1771_1772fs
1 paper
NM_001128636.4
p.G589delFs
c.1767delG
1 paper
NM_001128636.4
p.Q567E
c.1699C>G
1 paper
NM_001128636.4
p.R744G
c.2230C>G
1 paper
NM_001128636.4
p.R744Q
c.2231G>A
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