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

Selected Variant

2 papers

NM_182663.4

p.R248W

c.742C>T

Surrounding Variants

1 paper

NM_182663.4

p.R248Q

c.743G>A

1 paper

NM_182663.4

p.R247W

c.739C>T

1 paper

NM_182663.4

p.R257G

c.769C>G

1 paper

NM_182663.4

p.R257W

c.769C>T

1 paper

NM_182663.4

p.G238D

c.713G>A

1 paper

NM_182663.4

p.S260F

c.779C>T

1 paper

NM_182663.4

p.G234S

c.700G>A

2 papers

NM_182663.4

p.T274M

c.821C>T

1 paper

NM_182663.4

p.R277W

c.829C>T

1 paper

NM_182663.4

p.S294G

c.880A>G

1 paper

NM_182663.4

p.L306H

c.917T>A

1 paper

NM_182663.4

p.L306P

c.917T>C