Varaico: Literature-Extracted Genetic Variants

Gene:ELFN1
Variant:p.Q446H

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.Q446H
c.1338G>C
Surrounding Variants
1 paper
NM_001128636.4
p.Q446H
c.1338G>T
1 paper
NM_001128636.4
p.K451R
c.1352A>G
1 paper
NM_001128636.4
p.R441H
c.1322G>A
1 paper
NM_001128636.4
p.A454T
c.1360G>A
1 paper
NM_001128636.4
p.A435A
c.1305C>A
1 paper
NM_001128636.4
p.G434D
c.1301G>A
1 paper
NM_001128636.4
p.K463E
c.1387A>G
1 paper
NM_001128636.4
p.M429V
c.1285A>G
1 paper
NM_001128636.4
p.L475_A477del3
c.1423_1430del9
2 papers
NM_001128636.4
p.A481V
c.1442C>T
1 paper
NM_001128636.4
p.P405P
c.1215G>A
1 paper
NM_001128636.4
p.P403S
c.1207C>T
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