Varaico: Literature-Extracted Genetic Variants

Gene:AFAP1L1
Variant:p.R396C

AFAP1L1

55 papers

Pfam Domains

PHaa 221–316UCSCPH domain
PHaa 221–316UCSCPH domain
PHaa 419–507UCSCPH domain

Gene Aliases

HGNC Name

actin filament associated protein 1 like 1

HGNC Alias Symbol

FLJ36748

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152406.4
p.R396C
c.1186C>T
Surrounding Variants
1 paper
NM_152406.4
p.S387S
c.1161C>T
1 paper
NM_152406.4
p.R436C
c.1306C>T
1 paper
NM_152406.4
p.L454L
c.1362G>A
1 paper
NM_152406.4
p.A460T
c.1378G>A
1 paper
NM_152406.4
p.R475Q
c.1424G>A
1 paper
NM_152406.4
p.E493K
c.1477G>A
1 paper
NM_152406.4
p.R502C
c.1504C>T
2 papers
NM_152406.4
p.R502H
c.1505G>A
1 paper
NM_152406.4
p.R538C
c.1612C>T
1 paper
NM_152406.4
p.P327S
c.979C>T
1 paper
NM_152406.4
p.G319V
c.956G>T
2 papers
NM_152406.4
p.R312*
c.934C>T
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