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

1–12 of 130 variants

8 papers

NM_004840.3

p.K55_F56Splc

c.166-11T>C

2 papers

NM_004840.3

p.S34S

c.102G>A

2 papers

NM_004840.3

p.D88H

c.262G>C

2 papers

NM_004840.3

p.R121H

c.362G>A

2 papers

NM_004840.3

p.D185N

c.553G>A

2 papers

NM_004840.3

p.A361V

c.1082C>T

2 papers

NM_004840.3

p.L386R

c.1157T>G

2 papers

NM_004840.3

p.L387S

c.1160T>C

2 papers

NM_004840.3

p.I444N

c.1331T>A

1 paper

NM_004840.3

p.M1V

c.1A>G

1 paper

NM_004840.3

p.V8delFs

c.23delA

1 paper

NM_004840.3

p.L17L

c.49T>C