Varaico: Literature-Extracted Genetic Variants

ARHGEF6

119 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 encoded protein belongs to a family of...

Pfam Domains

CHaa 1–112UCSCCalponin homology (CH) domain

RhoGEF67_u1aa 114–160UCSCUnstructured region one on RhoGEF 6 and 7

SH3_2aa 164–217UCSCVariant SH3 domain

RhoGEFaa 245–419UCSCRhoGEF domain

PHaa 450–548UCSCPH domain

RhoGEF67_u2aa 576–674UCSCUnstructured region two on RhoGEF 6 and 7

Gene Aliases

HGNC Name

Rac/Cdc42 guanine nucleotide exchange factor 6

HGNC Previous Symbol

MRX46

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004840.3

p.R191*

c.571C>T

Surrounding Variants

1 paper

NM_004840.3

p.T190S

c.568A>T

1 paper

NM_004840.3

p.G196S

c.586G>A

2 papers

NM_004840.3

p.D185N

c.553G>A

1 paper

NM_004840.3

p.C182*

c.546T>A

1 paper

NM_004840.3

p.G207R

c.619G>C

1 paper

NM_004840.3

p.G207V

c.620G>T

1 paper

NM_004840.3

p.F169Y

c.506T>A

1 paper

NM_004840.3

p.V214insFs

c.641_642insC

1 paper

NM_004840.3

p.R215C

c.643C>T

1 paper

NM_004840.3

p.I217N

c.650T>A

1 paper

NM_004840.3

p.E154delFs

c.461_462delCT

1 paper

NM_004840.3

p.V143V

c.429T>C