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

2 papers

NM_001135608.3

p.L576F

c.1726C>T

Surrounding Variants

1 paper

NM_001135608.3

p.D573Y

c.1717G>T

1 paper

NM_001135608.3

p.A579A

c.1737C>T

1 paper

NM_001135608.3

p.V571M

c.1711G>A

1 paper

NM_001135608.3

p.R585G

c.1753C>G

1 paper

NM_001135608.3

p.R585Q

c.1754G>A

1 paper

NM_001135608.3

p.K586T

c.1757A>C

1 paper

NM_001135608.3

p.K587N

c.1761G>C

1 paper

NM_001135608.3

p.K587N

c.1761G>T

1 paper

NM_001135608.3

p.K592R

c.1775A>G

1 paper

NM_001135608.3

p.K592N

c.1776G>C

1 paper

NM_001135608.3

p.K592N

c.1776G>T

1 paper

NM_001135608.3

p.T610I

c.1829C>T