Varaico: Literature-Extracted Genetic Variants

ARHGAP26

133 papers

RefSeq Summary

Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins i...

Pfam Domains

BAR_3aa 6–249UCSCBAR domain of APPL family

PHaa 266–366UCSCPH domain

RhoGAPaa 391–541UCSCRhoGAP domain

SH3_9aa 763–812UCSCVariant SH3 domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 26

HGNC Alias Symbols

GRAF; KIAA0621; OPHN1L; OPHN1L1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001135608.3

p.S691F

c.2072C>T

Surrounding Variants

1 paper

NM_001135608.3

p.M687V

c.2059A>G

2 papers

NM_001135608.3

p.V699I

c.2095G>A

1 paper

NM_001135608.3

p.A682A

c.2046G>A

1 paper

NM_001135608.3

p.S676S

c.2028T>A

1 paper

NM_001135608.3

p.S674S

c.2022G>A

1 paper

NM_001135608.3

p.P672A

c.2014C>G

2 papers

NM_001135608.3

p.S671A

c.2011T>G

2 papers

NM_001135608.3

p.T670A

c.2008A>G

2 papers

NM_001135608.3

p.D729N

c.2185G>A

2 papers

NM_001135608.3

p.N730N

c.2190C>T