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.M1_G2insFs

c.3_4insA

Surrounding Variants

1 paper

NM_001135608.3

p.P4Q

c.11C>A

1 paper

NM_001135608.3

p.A5P

c.13G>C

1 paper

NM_001135608.3

p.E7insFs

c.19dupG

1 paper

NM_001135608.3

p.E7V

c.20A>T

1 paper

NM_001135608.3

p.P16_H25delFs

c.47_74del28

1 paper

NM_001135608.3

p.R19Q

c.56G>A

1 paper

NM_001135608.3

p.T21A

c.61A>G

1 paper

NM_001135608.3

p.E28Q

c.82G>C

1 paper

NM_001135608.3

p.N52Splc

c.154+7G>A

2 papers

NM_001135608.3

p.N52Splc

c.154+462T>C