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.N52fs

c.154_155fs

Surrounding Variants

1 paper

NM_001135608.3

p.N52_A61delFs

c.155_182del28

1 paper

NM_001135608.3

p.F69I

c.205T>A

1 paper

NM_001135608.3

p.Q70L

c.209A>T

1 paper

NM_001135608.3

p.A75T

c.223G>A

1 paper

NM_001135608.3

p.E76K

c.226G>A

1 paper

NM_001135608.3

p.T77insFs

c.229_230insTC

1 paper

NM_001135608.3

p.R85R

c.255A>G

1 paper

NM_001135608.3

p.Q88*

c.262C>T

1 paper

NM_001135608.3

p.Q88L

c.263A>T

1 paper

NM_001135608.3

p.R95T

c.284G>C

1 paper

NM_001135608.3

p.N96D

c.286A>G

3 papers

NM_001135608.3

p.R101W

c.301C>T