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.G222R

c.664G>C

Surrounding Variants

3 papers

NM_001135608.3

p.G222R

c.664G>A

1 paper

NM_001135608.3

p.D220V

c.659A>T

2 papers

NM_001135608.3

p.F224I

c.670T>A

1 paper

NM_001135608.3

p.K219N

c.657G>C

1 paper

NM_001135608.3

p.K219N

c.657G>T

2 papers

NM_001135608.3

p.E216K

c.646G>A

1 paper

NM_001135608.3

p.T229_I230insTC

c.685_689ins6

1 paper

NM_001135608.3

p.N234I

c.701A>T

1 paper

NM_001135608.3

p.L207V

c.619C>G

1 paper

NM_001135608.3

p.A202A

c.606C>T

1 paper

NM_001135608.3

p.P199_L200Splc

c.598-49C>A

1 paper

NM_001135608.3

p.V274M

c.820G>A