Varaico: Literature-Extracted Genetic Variants

Gene:LCE4A
Variant:p.C3*

LCE4A

48 papers

Pfam Domains

LCEaa 1–99UCSCLate cornified envelope

Gene Aliases

HGNC Name

late cornified envelope 4A

HGNC Previous Symbol

SPRL4A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001387222.1
p.C3*
c.9C>A
Surrounding Variants
1 paper
NM_001387222.1
p.Q8*
c.22C>T
1 paper
NM_001387222.1
p.C16_P17delFs
c.48_49delTC
1 paper
NM_001387222.1
p.I18V
c.52A>G
2 papers
NM_001387222.1
p.C25Y
c.74G>A
1 paper
NM_001387222.1
p.S43_S44ins6
c.127_131ins18
2 papers
NM_001387222.1
p.S43C
c.128C>G
1 paper
NM_001387222.1
p.S43_S44ins6
c.129_130ins18
1 paper
NM_001387222.1
p.S43_S44insFs
c.129_130ins10
1 paper
NM_001387222.1
p.S43_S44ins6
c.129_130ins18
18 papers
NM_001387222.1
p.S43delins
c.129delinsCAGCTCTGGGGGCTGCTGT
2 papers
NM_001387222.1
p.S44ins6
c.130_131ins18
1 paper
NM_001387222.1
p.S44fs
c.130_131fs
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