Varaico: Literature-Extracted Genetic Variants

ARHGEF28

313 papers

RefSeq Summary

This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyo...

Pfam Domains

C1_1aa 653–702UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

RhoGEFaa 853–1042UCSCRhoGEF domain

PH_16aa 1069–1188UCSCPH domain

Gene Aliases

HGNC Name

Rho guanine nucleotide exchange factor 28

HGNC Alias Symbols

RGNEF; p190RhoGEF; RIP2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 278 variants

6 papers

NM_001177693.2

p.W225R

c.673T>A

6 papers

NM_001177693.2

p.W225R

c.673T>C

6 papers

NM_001177693.2

p.P284Q

c.851C>A

5 papers

NM_001177693.2

p.R585K

c.1754G>A

5 papers

NM_001177693.2

p.H780N

c.2338C>A

4 papers

NM_001177693.2

p.E31E

c.93G>A

4 papers

NM_001177693.2

p.P1007insFs

c.3020_3021insC

4 papers

NM_001177693.2

p.S1664L

c.4991C>T

3 papers

NM_001177693.2

p.N108S

c.323A>G

3 papers

NM_001177693.2

p.R573C

c.1717C>T

3 papers

NM_001177693.2

p.Q713H

c.2139G>C

3 papers

NM_001177693.2

p.Q713H

c.2139G>T