Varaico: Literature-Extracted Genetic Variants

TRIO

416 papers

RefSeq Summary

This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growt...

Pfam Domains

CRAL_TRIO_2aa 84–211UCSCDivergent CRAL/TRIO domain

Spectrinaa 340–446UCSCSpectrin repeat

Spectrinaa 566–672UCSCSpectrin repeat

Spectrin_6aa 787–896UCSCKalirin-like, spectrin repeats

Spectrinaa 907–1011UCSCSpectrin repeat

Spectrinaa 1138–1244UCSCSpectrin repeat

Gene Aliases

HGNC Name

trio Rho guanine nucleotide exchange factor

HGNC Alias Symbol

ARHGEF23

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007118.4

p.S1459G

c.4375A>G

Surrounding Variants

9 papers

NM_007118.4

p.P1461T

c.4381C>A

7 papers

NM_007118.4

p.P1461L

c.4382C>T

1 paper

NM_007118.4

p.R1463G

c.4387C>G

2 papers

NM_007118.4

p.R1463*

c.4387C>T

1 paper

NM_007118.4

p.R1463Q

c.4388G>A

6 papers

NM_007118.4

p.N1465S

c.4394A>G

1 paper

NM_007118.4

p.D1466A

c.4397A>C

1 paper

NM_007118.4

p.I1450L

c.4348A>C

2 papers

NM_007118.4

p.H1469R

c.4406A>G

4 papers

NM_007118.4

p.G1448R

c.4342G>A

4 papers

NM_007118.4

p.G1448R

c.4342G>C

1 paper

NM_007118.4

p.M1472I

c.4416G>A