Varaico: Literature-Extracted Genetic Variants

Gene:RAB7A
Variant:p.K32E

RAB7A

206 papers

RefSeq Summary

RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathway...

Pfam Domains

Rasaa 10–175UCSCRas family

Gene Aliases

HGNC Name

RAB7A, member RAS oncogene family

HGNC Previous Symbols

RAB7; CMT2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_004637.6
p.K32E
c.94A>G
Surrounding Variants
1 paper
NM_004637.6
p.S34C
c.100A>T
1 paper
NM_004637.6
p.A39T
c.115G>A
1 paper
NM_004637.6
p.G20R
c.58G>A
1 paper
NM_004637.6
p.G20R
c.58G>C
1 paper
NM_004637.6
p.F45Y
c.134T>A
1 paper
NM_004637.6
p.L56P
c.167T>C
53 papers
NM_004637.6
p.Q67L
c.200A>T
1 paper
NM_004637.6
p.R69R
c.205C>A
7 papers
NM_004637.6
p.S72A
c.214T>G
1 paper
NM_004637.6
p.A76delFs
c.228delC
1 paper
NM_004637.6
p.C83S
c.247T>A
1 paper
NM_004637.6
p.C83S
c.248G>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."