Varaico: Literature-Extracted Genetic Variants

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

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

2 papers

NM_014700.4

p.R571H

c.1712G>A

Surrounding Variants

1 paper

NM_014700.4

p.E592E

c.1776A>G

1 paper

NM_014700.4

p.L691L

c.2073C>T

1 paper

NM_014700.4

p.E517D

c.1551G>C

1 paper

NM_014700.4

p.E517D

c.1551G>T