Varaico: Literature-Extracted Genetic Variants

Gene:RAB11FIP1
Variant:p.Y42S

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.Y42S
c.125A>C
Surrounding Variants
1 paper
NM_001002814.3
p.Y42C
c.125A>G
1 paper
NM_001002814.3
p.G34S
c.100G>A
1 paper
NM_001002814.3
p.L30L
c.90G>T
1 paper
NM_001002814.3
p.T23T
c.69G>A
1 paper
NM_001002814.3
p.P64delFs
c.191delG
1 paper
NM_001002814.3
p.L100V
c.298C>G
1 paper
NM_001002814.3
p.F103L
c.309C>A
1 paper
NM_001002814.3
p.E108K
c.322G>A
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