Varaico: Literature-Extracted Genetic Variants

Gene:RAB7A
Variant:p.A76delFs

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
1 paper
NM_004637.6
p.A76delFs
c.228delC
Surrounding Variants
7 papers
NM_004637.6
p.S72A
c.214T>G
1 paper
NM_004637.6
p.R69R
c.205C>A
1 paper
NM_004637.6
p.C83S
c.247T>A
1 paper
NM_004637.6
p.C83S
c.248G>C
53 papers
NM_004637.6
p.Q67L
c.200A>T
1 paper
NM_004637.6
p.A92S
c.274G>T
1 paper
NM_004637.6
p.P112L
c.335C>T
5 papers
NM_004637.6
p.N125I
c.374A>T
7 papers
NM_004637.6
p.K126R
c.377A>G
38 papers
NM_004637.6
p.L129F
c.385C>T
1 paper
NM_004637.6
p.L129P
c.386T>C
1 paper
NM_004637.6
p.E130K
c.388G>A
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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."