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

3 papers

NM_001135608.3

p.L492P

c.1475T>C

Surrounding Variants

1 paper

NM_001135608.3

p.E498Q

c.1492G>C

2 papers

NM_001135608.3

p.R501W

c.1501C>T

1 paper

NM_001135608.3

p.K478I

c.1433A>T

1 paper

NM_001135608.3

p.G462E

c.1385G>A

1 paper

NM_001135608.3

p.I440V

c.1318A>G

1 paper

NM_001135608.3

p.A433V

c.1298C>T