Varaico: Literature-Extracted Genetic Variants

ARHGEF4

58 papers

RefSeq Summary

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The protein encoded by this gene may form ...

Pfam Domains

SH3_1aa 1386–1431UCSCSH3 domain

RhoGEFaa 1474–1652UCSCRhoGEF domain

SOS1_NGEF_PHaa 1680–1790UCSCSOS1/NGEF-like PH domain

Gene Aliases

HGNC Name

Rho guanine nucleotide exchange factor 4

HGNC Alias Symbols

STM6; KIAA1112; ASEF; ASEF1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 43 variants

2 papers

NM_001367493.1

p.L251P

c.752T>C

2 papers

NM_001367493.1

p.E365A

c.1094A>C

2 papers

NM_001367493.1

p.S644N

c.1931G>A

1 paper

NM_001367493.1

p.G18V

c.53G>T

1 paper

NM_001367493.1

p.A19S

c.55G>T

1 paper

NM_001367493.1

p.S64*

c.191C>A

1 paper

NM_001367493.1

p.S64*

c.191C>G

1 paper

NM_001367493.1

p.E100G

c.299A>G

1 paper

NM_001367493.1

p.E157K

c.469G>A

1 paper

NM_001367493.1

p.R170Q

c.509G>A

1 paper

NM_001367493.1

p.R187G

c.559A>G

1 paper

NM_001367493.1

p.G193S

c.577G>A