Varaico: Literature-Extracted Genetic Variants

Gene:ELFN1
Variant:p.N172I

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.N172I
c.515A>T
Surrounding Variants
1 paper
NM_001128636.4
p.N166S
c.497A>G
1 paper
NM_001128636.4
p.L179delFs
c.535delC
1 paper
NM_001128636.4
p.L179fs
c.535_536fs
1 paper
NM_001128636.4
p.V159del1
c.475_476delGTC
1 paper
NM_001128636.4
p.N190K
c.570C>A
1 paper
NM_001128636.4
p.N190K
c.570C>G
1 paper
NM_001128636.4
p.A149T
c.445G>A
1 paper
NM_001128636.4
p.I144M
c.432C>G
2 papers
NM_001128636.4
p.R203H
c.608G>A
1 paper
NM_001128636.4
p.L134L
c.402G>A
1 paper
NM_001128636.4
p.L128_L137del10
c.382_410del30
1 paper
NM_001128636.4
p.E125A
c.374A>C
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