Varaico: Literature-Extracted Genetic Variants

Gene:ELFN1
Variant:p.R744Q

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
1 paper
NM_001128636.4
p.R744Q
c.2231G>A
Surrounding Variants
1 paper
NM_001128636.4
p.R744G
c.2230C>G
1 paper
NM_001128636.4
p.S764F
c.2291C>T
1 paper
NM_001128636.4
p.S764delins
c.2291_2292delinsTT
1 paper
NM_001128636.4
p.C770Y
c.2309G>A
1 paper
NM_001128636.4
p.R779H
c.2336G>A
1 paper
NM_001128636.4
p.R704Q
c.2111G>A
1 paper
NM_001128636.4
p.R786Q
c.2357G>A
1 paper
NM_001128636.4
p.E789K
c.2365G>A
1 paper
NM_001128636.4
p.E791G
c.2372A>G
1 paper
NM_001128636.4
p.A796T
c.2386G>A
1 paper
NM_001128636.4
p.A796V
c.2387C>T
3 papers
NM_001128636.4
p.R691W
c.2071C>T
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