Varaico: Literature-Extracted Genetic Variants

Gene:RAB11FIP1
Variant:p.S389P

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.S389P
c.1165T>C
Surrounding Variants
1 paper
NM_001002814.3
p.E383K
c.1147G>A
2 papers
NM_001002814.3
p.R379G
c.1135A>G
1 paper
NM_001002814.3
p.S385_R399delFs
c.1153_1196del44
1 paper
NM_001002814.3
p.M412I
c.1236G>A
1 paper
NM_001002814.3
p.A362V
c.1085C>T
1 paper
NM_001002814.3
p.E359Q
c.1075G>C
1 paper
NM_001002814.3
p.E425D
c.1275G>T
1 paper
NM_001002814.3
p.E425D
c.1275G>C
1 paper
NM_001002814.3
p.E430A
c.1289A>C
1 paper
NM_001002814.3
p.S345A
c.1033T>G
1 paper
NM_001002814.3
p.S435A
c.1303T>G
1 paper
NM_001002814.3
p.G449S
c.1345G>A
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