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

1–12 of 132 variants

4 papers

NM_001135608.3

p.*760S

c.2279A>C

3 papers

NM_001135608.3

p.R101W

c.301C>T

3 papers

NM_001135608.3

p.G222R

c.664G>A

3 papers

NM_001135608.3

p.G222R

c.664G>C

3 papers

NM_001135608.3

p.L492P

c.1475T>C

2 papers

NM_001135608.3

p.N52Splc

c.154+462T>C

2 papers

NM_001135608.3

p.E216K

c.646G>A

2 papers

NM_001135608.3

p.F224I

c.670T>A

2 papers

NM_001135608.3

p.R501W

c.1501C>T

2 papers

NM_001135608.3

p.Q520R

c.1559A>G

2 papers

NM_001135608.3

p.L576F

c.1726C>T

2 papers

NM_001135608.3

p.T670A

c.2008A>G