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.M722I

c.2166G>A

Surrounding Variants

2 papers

NM_022340.4

p.M722I

c.2166G>T

2 papers

NM_022340.4

p.M722I

c.2166G>C

1 paper

NM_022340.4

p.S726S

c.2178T>C

1 paper

NM_022340.4

p.N718S

c.2153A>G

1 paper

NM_022340.4

p.G708S

c.2122G>A

1 paper

NM_022340.4

p.S702S

c.2106A>C

1 paper

NM_022340.4

p.D744G

c.2231A>G

1 paper

NM_022340.4

p.I680F

c.2038A>T

1 paper

NM_022340.4

p.E669K

c.2005G>A

1 paper

NM_022340.4

p.D784N

c.2350G>A

1 paper

NM_022340.4

p.G648R

c.1942G>A

1 paper

NM_022340.4

p.A646insFs

c.1936_1937insTG