Varaico: Literature-Extracted Genetic Variants

Gene:FER1L5
Variant:p.E492*

FER1L5

52 papers

Pfam Domains

C2aa 1–100UCSCC2 domain
C2aa 167–268UCSCC2 domain
C2aa 325–426UCSCC2 domain
FerAaa 604–670UCSCFerA (NUC095) domain
FerBaa 692–765UCSCFerB (NUC096) domain
C2aa 1076–1177UCSCC2 domain

Gene Aliases

HGNC Name

fer-1 like family member 5

HGNC Alias Symbol

DKFZp434I0121

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001293083.2
p.E492*
c.1474G>T
Surrounding Variants
1 paper
NM_001293083.2
p.E497_K498Splc
c.1491+8C>T
1 paper
NM_001293083.2
p.E473Q
c.1417G>C
1 paper
NM_001293083.2
p.C455Y
c.1364G>A
1 paper
NM_001293083.2
p.P434S
c.1300C>T
1 paper
NM_001293083.2
p.P430_S435del6
c.1288_1304del18
1 paper
NM_001293083.2
p.N519S
c.1556A>G
1 paper
NM_001293083.2
p.D311N
c.931G>A
1 paper
NM_001293083.2
p.I299insFs
c.896_897insT
2 papers
NM_001293083.2
p.G294R
c.880G>A
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