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.L386R

c.1157T>G

Surrounding Variants

1 paper

NM_004840.3

p.L386P

c.1157T>C

1 paper

NM_004840.3

p.L387fs

c.1159_1160fs

2 papers

NM_004840.3

p.L387S

c.1160T>C

1 paper

NM_004840.3

p.L386_L387delFs

c.1158_1159delAG

1 paper

NM_004840.3

p.R392Q

c.1175G>A

1 paper

NM_004840.3

p.R379Q

c.1136G>A

1 paper

NM_004840.3

p.R379R

c.1135C>A

1 paper

NM_004840.3

p.G365G

c.1095T>G

1 paper

NM_004840.3

p.S362S

c.1086G>A

1 paper

NM_004840.3

p.S362L

c.1085C>T

2 papers

NM_004840.3

p.A361V

c.1082C>T

1 paper

NM_004840.3

p.E357G

c.1070A>G