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

1–12 of 68 variants

38 papers

NM_007182.5

p.A133S

c.397G>T

13 papers

NM_007182.5

p.S131F

c.392C>T

7 papers

NM_007182.5

p.C65R

c.193T>C

6 papers

NM_007182.5

p.R257Q

c.770G>A

5 papers

NM_007182.5

p.T88P

c.262A>C

5 papers

NM_007182.5

p.S203A

c.607T>G

4 papers

NM_007182.5

p.K21Q

c.61A>C

4 papers

NM_007182.5

p.R77C

c.229C>T

4 papers

NM_007182.5

p.V211A

c.632T>C

3 papers

NM_007182.5

p.H84Splc

c.250+2T>A

3 papers

NM_007182.5

p.E246K

c.736G>A

2 papers

NM_007182.5

p.E4D

c.12G>C