Varaico: Literature-Extracted Genetic Variants

Gene:LCE4A
Variant:p.C50S

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
1 paper
NM_001387222.1
p.C50S
c.149G>C
Surrounding Variants
1 paper
NM_001387222.1
p.C50S
c.148T>A
1 paper
NM_001387222.1
p.C51C
c.153C>T
1 paper
NM_001387222.1
p.C48ins3
c.143_144ins9
1 paper
NM_001387222.1
p.C48ins6
c.142_143ins18
2 papers
NM_001387222.1
p.C48_G49del0
c.142_147del6
1 paper
NM_001387222.1
p.G47ins1
c.140_141insGCT
1 paper
NM_001387222.1
p.G46G
c.138G>C
1 paper
NM_001387222.1
p.G46_G47ins6
c.138_139ins18
1 paper
NM_001387222.1
p.G46_G47ins6
c.138_139ins18
1 paper
NM_001387222.1
p.E54G
c.161A>G
1 paper
NM_001387222.1
p.G56C
c.166G>T
2 papers
NM_001387222.1
p.S44ins6
c.130_131ins18
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