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

1 paper

NM_022340.4

p.T258T

c.774G>A

Surrounding Variants

1 paper

NM_022340.4

p.C252F

c.755G>T

1 paper

NM_022340.4

p.I266V

c.796A>G

1 paper

NM_022340.4

p.R250C

c.748C>T

1 paper

NM_022340.4

p.D246N

c.736G>A

1 paper

NM_022340.4

p.D274V

c.821A>T

1 paper

NM_022340.4

p.R227C

c.679C>T

1 paper

NM_022340.4

p.G225D

c.674G>A

1 paper

NM_022340.4

p.P220S

c.658C>T

1 paper

NM_022340.4

p.A293T

c.877G>A

1 paper

NM_022340.4

p.P294A

c.880C>G

1 paper

NM_022340.4

p.E192A

c.575A>C

1 paper

NM_022340.4

p.G183R

c.547G>C