Varaico: Literature-Extracted Genetic Variants

Gene:RAB11FIP3
Variant:p.V239L

RAB11FIP3

28 papers

RefSeq Summary

Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins tha...

Pfam Domains

EF-hand_7aa 205–264UCSCEF-hand domain pair
EF-hand_7aa 205–264UCSCEF-hand domain pair
Rab11-FIP3aa 486–610UCSCRab11-FIP3-like domain
RBD-FIPaa 716–756UCSCFIP domain

Gene Aliases

HGNC Name

RAB11 family interacting protein 3

HGNC Alias Symbols

KIAA0665; Rab11-FIP3; eferin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014700.4
p.V239L
c.715G>C
Surrounding Variants
1 paper
NM_014700.4
p.V239L
c.715G>T
1 paper
NM_014700.4
p.V298L
c.892G>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."