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.Q498H

c.1494G>C

Surrounding Variants

1 paper

NM_022340.4

p.Q498H

c.1494G>T

1 paper

NM_022340.4

p.E495K

c.1483G>A

1 paper

NM_022340.4

p.E506K

c.1516G>A

1 paper

NM_022340.4

p.L485V

c.1453C>G

1 paper

NM_022340.4

p.E513G

c.1538A>G

1 paper

NM_022340.4

p.R483H

c.1448G>A

1 paper

NM_022340.4

p.M479I

c.1437G>C

1 paper

NM_022340.4

p.R478H

c.1433G>A

1 paper

NM_022340.4

p.I470M

c.1410C>G

1 paper

NM_022340.4

p.R534K

c.1601G>A

1 paper

NM_022340.4

p.P458P

c.1374G>T

1 paper

NM_022340.4

p.S548F

c.1643C>T