Varaico: Literature-Extracted Genetic Variants

Gene:ELFN1
Variant:p.A21T

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.A21T
c.61G>A
Surrounding Variants
1 paper
NM_001128636.4
p.R26C
c.76C>T
3 papers
NM_001128636.4
p.A15fs
c.43_44fs
3 papers
NM_001128636.4
p.A14_T17delFs
c.42_49del8
1 paper
NM_001128636.4
p.A8T
c.22G>A
1 paper
NM_001128636.4
p.I43_Q46delFs
c.128_137del10
1 paper
NM_001128636.4
p.A42_P49del8
c.124_146del24
2 papers
NM_001128636.4
p.P50H
c.149C>A
1 paper
NM_001128636.4
p.I62S
c.185T>G
1 paper
NM_001128636.4
p.S79L
c.236C>T
1 paper
NM_001128636.4
p.V112ins3
c.334_335ins9
1 paper
NM_001128636.4
p.R121C
c.361C>T
1 paper
NM_001128636.4
p.E125K
c.373G>A
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