Varaico: Literature-Extracted Genetic Variants

Gene:RAB7A

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
1–12 of 51 variants
53 papers
NM_004637.6
p.Q67L
c.200A>T
45 papers
NM_004637.6
p.V162M
c.484G>A
38 papers
NM_004637.6
p.L129F
c.385C>T
33 papers
NM_004637.6
p.N161T
c.482A>C
32 papers
NM_004637.6
p.K157N
c.471G>C
32 papers
NM_004637.6
p.K157N
c.471G>T
10 papers
NM_004637.6
p.N161I
c.482A>T
7 papers
NM_004637.6
p.S72A
c.214T>G
7 papers
NM_004637.6
p.K126R
c.377A>G
5 papers
NM_004637.6
p.N125I
c.374A>T
3 papers
NM_004637.6
p.K32E
c.94A>G
2 papers
NM_004637.6
p.Y183F
c.548A>T
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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."