Varaico: Literature-Extracted Genetic Variants

RBSN

77 papers

RefSeq Summary

This gene encodes a protein that belongs to the FYVE zinc finger family of proteins. The encoded protein interacts with Ras-related proteins that regulate membrane trafficking. A missense mutation in ...

Pfam Domains

FYVEaa 153–261UCSCFYVE zinc finger

Rbsnaa 458–499UCSCRabenosyn Rab binding domain

NPFaa 548–737UCSCRabosyn-5 repeating NPF sequence-motif

Rbsnaa 738–779UCSCRabenosyn Rab binding domain

Gene Aliases

HGNC Name

rabenosyn, RAB effector

HGNC Previous Symbol

ZFYVE20

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_022340.4

p.E34Q

c.100G>C

Surrounding Variants

1 paper

NM_022340.4

p.S31*

c.92C>G

1 paper

NM_022340.4

p.H30H

c.90C>T

1 paper

NM_022340.4

p.H30N

c.88C>A

1 paper

NM_022340.4

p.G46W

c.136G>T

2 papers

NM_022340.4

p.L18M

c.52C>A

1 paper

NM_022340.4

p.S73A

c.217T>G

1 paper

NM_022340.4

p.G97C

c.289G>T

2 papers

NM_022340.4

p.G97R

c.289G>C