Varaico: Literature-Extracted Genetic Variants

Gene:FER1L6
Variant:p.L1681*

FER1L6

130 papers

Pfam Domains

C2aa 83–185UCSCC2 domain
FerIaa 187–236UCSCFerI (NUC094) domain
C2aa 243–357UCSCC2 domain
FerBaa 712–784UCSCFerB (NUC096) domain
C2aa 826–931UCSCC2 domain
C2aa 1003–1096UCSCC2 domain

Gene Aliases

HGNC Name

fer-1 like family member 6

HGNC Alias Symbol

C8ORFK23

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001039112.2
p.L1681*
c.5042T>A
Surrounding Variants
1 paper
NM_001039112.2
p.L1681*
c.5042T>G
1 paper
NM_001039112.2
p.L1681I
c.5041T>A
1 paper
NM_001039112.2
p.E1685K
c.5053G>A
1 paper
NM_001039112.2
p.D1706N
c.5116G>A
1 paper
NM_001039112.2
p.R1656C
c.4966C>T
1 paper
NM_001039112.2
p.Y1644*
c.4932C>A
1 paper
NM_001039112.2
p.Y1644*
c.4932C>G
1 paper
NM_001039112.2
p.T1640K
c.4919C>A
1 paper
NM_001039112.2
p.E1639K
c.4915G>A
2 papers
NM_001039112.2
p.R1720Q
c.5159G>A
3 papers
NM_001039112.2
p.C1728Y
c.5183G>A
1 paper
NM_001039112.2
p.E1734*
c.5200G>T
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