Varaico: Literature-Extracted Genetic Variants

Gene:AFAP1L2
Variant:p.N474fs

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.N474fs
c.1420_1421fs
Surrounding Variants
1 paper
NM_001001936.3
p.L477fs
c.1429_1430fs
1 paper
NM_001001936.3
p.L476_L477delFs
c.1428_1429delAG
1 paper
NM_001001936.3
p.A462A
c.1386C>T
1 paper
NM_001001936.3
p.D461A
c.1382A>C
1 paper
NM_001001936.3
p.D458D
c.1374C>T
1 paper
NM_001001936.3
p.G447V
c.1340G>T
1 paper
NM_001001936.3
p.L441P
c.1322T>C
1 paper
NM_001001936.3
p.Q480L
c.1439A>T
1 paper
NM_001001936.3
p.D491N
c.1471G>A
3 papers
NM_001001936.3
p.T522S
c.1564A>T
3 papers
NM_001001936.3
p.T522S
c.1565C>G
1 paper
NM_001001936.3
p.A553A
c.1659A>G
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