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.T641A

c.1921A>G

Surrounding Variants

1 paper

NM_022340.4

p.A640T

c.1918G>A

1 paper

NM_022340.4

p.A646insFs

c.1936_1937insTG

1 paper

NM_022340.4

p.G648R

c.1942G>A

1 paper

NM_022340.4

p.E669K

c.2005G>A

1 paper

NM_022340.4

p.R610H

c.1829G>A

1 paper

NM_022340.4

p.I680F

c.2038A>T

3 papers

NM_022340.4

p.L591P

c.1772T>C

1 paper

NM_022340.4

p.S702S

c.2106A>C

1 paper

NM_022340.4

p.G708S

c.2122G>A

1 paper

NM_022340.4

p.N718S

c.2153A>G

1 paper

NM_022340.4

p.R563K

c.1688G>A

2 papers

NM_022340.4

p.M722I

c.2166G>T