Varaico: Literature-Extracted Genetic Variants

Gene:RAB7A
Variant:p.Y183F

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
2 papers
NM_004637.6
p.Y183F
c.548A>T
Surrounding Variants
1 paper
NM_004637.6
p.E179*
c.535G>T
1 paper
NM_004637.6
p.K191R
c.572A>G
1 paper
NM_004637.6
p.K194R
c.581A>G
1 paper
NM_004637.6
p.K199T
c.596A>C
1 paper
NM_004637.6
p.A202P
c.604G>C
1 paper
NM_004637.6
p.E203Q
c.607G>C
2 papers
NM_004637.6
p.C205S
c.613T>A
2 papers
NM_004637.6
p.C205S
c.614G>C
2 papers
NM_004637.6
p.C207S
c.619T>A
2 papers
NM_004637.6
p.C207S
c.620G>C
1 paper
NM_004637.6
p.Q176_E177Splc
c.528+24C>T
1 paper
NM_004637.6
p.K175N
c.525G>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."