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.V399A

c.1196T>C

Surrounding Variants

1 paper

NM_022340.4

p.L376L

c.1128G>A

1 paper

NM_022340.4

p.Q367_E368Splc

c.1102-2A>G

1 paper

NM_022340.4

p.A403T

c.1207G>A

1 paper

NM_022340.4

p.R409insFs

c.1226_1227insG

1 paper

NM_022340.4

p.A422V

c.1265C>T

6 papers

NM_022340.4

p.G425R

c.1273G>C

6 papers

NM_022340.4

p.G425R

c.1273G>A

1 paper

NM_022340.4

p.G442G

c.1326C>T

1 paper

NM_022340.4

p.P458P

c.1374G>T

1 paper

NM_022340.4

p.I470M

c.1410C>G

1 paper

NM_022340.4

p.R478H

c.1433G>A

1 paper

NM_022340.4

p.M479I

c.1437G>C