Varaico: Literature-Extracted Genetic Variants

Gene:RAB11FIP1
Variant:p.D995Y

RAB11FIP1

125 papers

RefSeq Summary

This gene encodes one of the Rab11-family interacting proteins (Rab11-FIPs), which play a role in the Rab-11 mediated recycling of vesicles. The encoded protein may be involved in endocytic sorting, t...

Pfam Domains

C2aa 18–128UCSCC2 domain
RBD-FIPaa 1226–1273UCSCFIP domain

Gene Aliases

HGNC Name

RAB11 family interacting protein 1

HGNC Alias Symbols

RCP; FLJ22622; FLJ22524; Rab11-FIP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001002814.3
p.D995Y
c.2983G>T
Surrounding Variants
1 paper
NM_001002814.3
p.D978D
c.2934C>T
1 paper
NM_001002814.3
p.R1031G
c.3091A>G
1 paper
NM_001002814.3
p.Q942P
c.2825A>C
1 paper
NM_001002814.3
p.L1056V
c.3166C>G
1 paper
NM_001002814.3
p.L910I
c.2728C>A
3 papers
NM_001002814.3
p.D1092H
c.3274G>C
1 paper
NM_001002814.3
p.F894C
c.2681T>G
1 paper
NM_001002814.3
p.C875S
c.2624G>C
1 paper
NM_001002814.3
p.C875S
c.2623T>A
1 paper
NM_001002814.3
p.T1121T
c.3363C>A
1 paper
NM_001002814.3
p.A1124T
c.3370G>A
1 paper
NM_001002814.3
p.K1129fs
c.3385_3386fs
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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."