Varaico: Literature-Extracted Genetic Variants

RASSF1

115 papers

RefSeq Summary

This gene encodes a protein similar to the RAS effector proteins. Loss or altered expression of this gene has been associated with the pathogenesis of a variety of cancers, which suggests the tumor su...

Pfam Domains

C1_1aa 52–108UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

RAaa 203–292UCSCRas association (RalGDS/AF-6) domain

Nore1-SARAHaa 299–338UCSCNovel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain

Gene Aliases

HGNC Name

Ras association domain family member 1

HGNC Alias Symbols

NORE2A; REH3P21; RDA32; 123F2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_007182.5

p.R257Q

c.770G>A

Surrounding Variants

1 paper

NM_007182.5

p.R257G

c.769C>G

1 paper

NM_007182.5

p.L268V

c.802C>G

1 paper

NM_007182.5

p.L270V

c.808C>G

1 paper

NM_007182.5

p.N292_W293Splc

c.876+1G>A

3 papers

NM_007182.5

p.E246K

c.736G>A

1 paper

NM_007182.5

p.R240C

c.718C>T

1 paper

NM_007182.5

p.D237N

c.709G>A

1 paper

NM_007182.5

p.V225I

c.673G>A

1 paper

NM_007182.5

p.A222V

c.665C>T

1 paper

NM_007182.5

p.V216L

c.646G>T

1 paper

NM_007182.5

p.V216L

c.646G>C

1 paper

NM_007182.5

p.H213R

c.638A>G