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.E565K

c.1693G>A

Surrounding Variants

1 paper

NM_001135608.3

p.K566_I567Splc

c.1698+1G>A

1 paper

NM_001135608.3

p.D549N

c.1645G>A

1 paper

NM_001135608.3

p.I547I

c.1641C>A

1 paper

NM_001135608.3

p.I547M

c.1641C>G

1 paper

NM_001135608.3

p.A546T

c.1636G>A

1 paper

NM_001135608.3

p.E542K

c.1624G>A

1 paper

NM_001135608.3

p.Q540R

c.1619A>G

1 paper

NM_001135608.3

p.V525M

c.1573G>A

1 paper

NM_001135608.3

p.T524T

c.1572G>A

2 papers

NM_001135608.3

p.Q520R

c.1559A>G