Varaico: Literature-Extracted Genetic Variants

Gene:SEC14L1
Variant:p.P34A

SEC14L1

35 papers

RefSeq Summary

The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in...

Pfam Domains

PRELIaa 17–173UCSCPRELI-like family
PRELIaa 17–173UCSCPRELI-like family
CRAL_TRIO_Naa 258–299UCSCCRAL/TRIO, N-terminal domain
CRAL_TRIO_Naa 258–299UCSCCRAL/TRIO, N-terminal domain
CRAL_TRIOaa 324–489UCSCCRAL/TRIO domain

Gene Aliases

HGNC Name

SEC14 like lipid binding 1

HGNC Alias Symbol

PRELID4A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001143998.2
p.P34A
c.100C>G
Surrounding Variants
1 paper
NM_001143998.2
p.P34insFs
c.100_101ins7
1 paper
NM_001143998.2
p.Y114S
c.341A>C
1 paper
NM_001143998.2
p.D122H
c.364G>C
1 paper
NM_001143998.2
p.M149I
c.447G>A
1 paper
NM_001143998.2
p.M149I
c.447G>C
1 paper
NM_001143998.2
p.M149I
c.447G>T
1 paper
NM_001143998.2
p.Y166C
c.497A>G
1 paper
NM_001143998.2
p.E172K
c.514G>A
1 paper
NM_001143998.2
p.A205A
c.615C>T
1 paper
NM_001143998.2
p.V206I
c.616G>A
1 paper
NM_001143998.2
p.V207I
c.619G>A
1 paper
NM_001143998.2
p.L222L
c.666C>T
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