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

2 papers

NM_004840.3

p.I444N

c.1331T>A

Surrounding Variants

1 paper

NM_004840.3

p.E442K

c.1324G>A

1 paper

NM_004840.3

p.N446N

c.1338C>T

1 paper

NM_004840.3

p.Q437Q

c.1311G>A

1 paper

NM_004840.3

p.F452L

c.1354T>C

1 paper

NM_004840.3

p.F452L

c.1356T>G

1 paper

NM_004840.3

p.F452L

c.1356T>A

1 paper

NM_004840.3

p.L432P

c.1295T>C

1 paper

NM_004840.3

p.Y460C

c.1379A>G

1 paper

NM_004840.3

p.K425K

c.1275A>G

1 paper

NM_004840.3

p.R422W

c.1264A>T

1 paper

NM_004840.3

p.D420N

c.1258G>A

1 paper

NM_004840.3

p.M415T

c.1244T>C