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.M1V

c.1A>G

Surrounding Variants

1 paper

NM_004840.3

p.V8delFs

c.23delA

1 paper

NM_004840.3

p.L17L

c.49T>C

1 paper

NM_004840.3

p.P27P

c.81G>A

1 paper

NM_004840.3

p.E28V

c.83A>T

2 papers

NM_004840.3

p.S34S

c.102G>A

1 paper

NM_004840.3

p.N37D

c.109A>G

1 paper

NM_004840.3

p.V39I

c.115G>A

1 paper

NM_004840.3

p.K43R

c.128A>G

8 papers

NM_004840.3

p.K55_F56Splc

c.166-11T>C

1 paper

NM_004840.3

p.F56C

c.167T>G

1 paper

NM_004840.3

p.C57*

c.171T>A

1 paper

NM_004840.3

p.L58V

c.172C>G