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.L103F

c.307C>T

Surrounding Variants

1 paper

NM_004840.3

p.V99A

c.296T>C

1 paper

NM_004840.3

p.D88G

c.263A>G

2 papers

NM_004840.3

p.D88H

c.262G>C

1 paper

NM_004840.3

p.D86A

c.257A>C

1 paper

NM_004840.3

p.D112Splc

c.334+100A>G

1 paper

NM_004840.3

p.D112Splc

c.335-1G>A

1 paper

NM_004840.3

p.R121C

c.361C>T

2 papers

NM_004840.3

p.R121H

c.362G>A

1 paper

NM_004840.3

p.Q136H

c.408G>T

1 paper

NM_004840.3

p.Q136H

c.408G>C

1 paper

NM_004840.3

p.V143V

c.429T>C

1 paper

NM_004840.3

p.E154delFs

c.461_462delCT