Varaico: Literature-Extracted Genetic Variants

Gene:AFAP1L2
Variant:p.Q254H

AFAP1L2

78 papers

Pfam Domains

PHaa 176–271UCSCPH domain
PHaa 346–446UCSCPH domain

Gene Aliases

HGNC Name

actin filament associated protein 1 like 2

HGNC Previous Symbol

KIAA1914

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001001936.3
p.Q254H
c.762G>C
Surrounding Variants
1 paper
NM_001001936.3
p.Q254H
c.762G>T
1 paper
NM_001001936.3
p.Q258R
c.773A>G
1 paper
NM_001001936.3
p.E236D
c.708G>T
1 paper
NM_001001936.3
p.E236D
c.708G>C
1 paper
NM_001001936.3
p.R233W
c.697C>T
1 paper
NM_001001936.3
p.E229D
c.687G>T
1 paper
NM_001001936.3
p.E229D
c.687G>C
1 paper
NM_001001936.3
p.A176T
c.526G>A
1 paper
NM_001001936.3
p.M173K
c.518T>A
1 paper
NM_001001936.3
p.G169S
c.505G>A
1 paper
NM_001001936.3
p.Q162*
c.484C>T
1 paper
NM_001001936.3
p.Y161F
c.482A>T
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