Varaico: Literature-Extracted Genetic Variants

RASSF5

76 papers

RefSeq Summary

This gene is a member of the Ras association domain family. It functions as a tumor suppressor, and is inactivated in a variety of cancers. The encoded protein localizes to centrosomes and microtubule...

Pfam Domains

C1_1aa 123–173UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

RAaa 274–364UCSCRas association (RalGDS/AF-6) domain

Nore1-SARAHaa 371–410UCSCNovel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

Gene Aliases

HGNC Name

Ras association domain family member 5

HGNC Alias Symbols

Maxp1; NORE1; RAPL

Papers

RefSeq ID

Protein change

DNA change

1–12 of 73 variants

3 papers

NM_182663.4

p.G328R

c.982G>A

3 papers

NM_182663.4

p.G328R

c.982G>C

2 papers

NM_182663.4

p.A4A

c.12G>C

2 papers

NM_182663.4

p.R248W

c.742C>T

2 papers

NM_182663.4

p.T274M

c.821C>T

1 paper

NM_182663.4

p.M1insFs

c.2dupT

1 paper

NM_182663.4

p.D18N

c.52G>A

1 paper

NM_182663.4

p.P34Q

c.101C>A

1 paper

NM_182663.4

p.S42L

c.125C>T

1 paper

NM_182663.4

p.T52delFs

c.154delA

1 paper

NM_182663.4

p.T52I

c.155C>T

1 paper

NM_182663.4

p.G55R

c.163G>A