Varaico: Literature-Extracted Genetic Variants

Gene:RAB11FIP1
Variant:p.T586fs

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.T586fs
c.1756_1757fs
Surrounding Variants
1 paper
NM_001002814.3
p.T586insFs
c.1758dupA
1 paper
NM_001002814.3
p.V576fs
c.1726_1727fs
1 paper
NM_001002814.3
p.V576A
c.1727T>C
1 paper
NM_001002814.3
p.S596_S597del1
c.1788_1790delGAG
1 paper
NM_001002814.3
p.S596_S597del2
c.1786_1790del6
1 paper
NM_001002814.3
p.S563C
c.1688C>G
1 paper
NM_001002814.3
p.L617V
c.1849C>G
1 paper
NM_001002814.3
p.S556Y
c.1667C>A
1 paper
NM_001002814.3
p.R620M
c.1859G>T
1 paper
NM_001002814.3
p.Q622K
c.1864C>A
1 paper
NM_001002814.3
p.E547K
c.1639G>A
3 papers
NM_001002814.3
p.A651V
c.1952C>T
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