Varaico: Literature-Extracted Genetic Variants

Gene:SAR1B
Variant:p.E122Q

SAR1B

55 papers

RefSeq Summary

The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from t...

Pfam Domains

Arfaa 12–197UCSCADP-ribosylation factor family

Gene Aliases

HGNC Name

secretion associated Ras related GTPase 1B

HGNC Previous Symbol

SARA2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016103.4
p.E122Q
c.364G>C
Surrounding Variants
3 papers
NM_016103.4
p.E122*
c.364G>T
2 papers
NM_016103.4
p.E122A
c.365A>C
1 paper
NM_016103.4
p.A125insFs
c.374_375insGA
4 papers
NM_016103.4
p.D116_S117Splc
c.349-1G>C
1 paper
NM_016103.4
p.N134Y
c.400A>T
1 paper
NM_016103.4
p.D137H
c.409G>C
13 papers
NM_016103.4
p.D137N
c.409G>A
1 paper
NM_016103.4
p.D137G
c.410A>G
1 paper
NM_016103.4
p.A141D
c.422C>A
1 paper
NM_016103.4
p.A141delFs
c.422delG
1 paper
NM_016103.4
p.S143T
c.428G>C
1 paper
NM_016103.4
p.E144A
c.431A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."