Varaico: Literature-Extracted Genetic Variants

ARHGEF10L

132 papers

RefSeq Summary

This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The enc...

Pfam Domains

RhoGEFaa 320–501UCSCRhoGEF domain

PH_19aa 525–681UCSCPH domain

WD40_2aa 789–1279UCSCWD40 repeated domain

Gene Aliases

HGNC Name

Rho guanine nucleotide exchange factor 10 like

HGNC Alias Symbols

FLJ10521; KIAA1626

Papers

RefSeq ID

Protein change

DNA change

1–12 of 239 variants

7 papers

NM_018125.4

p.T1180A

c.3538A>G

7 papers

NM_018125.4

p.I1219V

c.3655A>G

3 papers

NM_018125.4

p.D69N

c.205G>A

3 papers

NM_018125.4

p.R1232C

c.3694C>T

2 papers

NM_018125.4

p.A34V

c.101C>T

2 papers

NM_018125.4

p.A96V

c.287C>T

2 papers

NM_018125.4

p.H142R

c.425A>G

2 papers

NM_018125.4

p.R162R

c.484C>A

2 papers

NM_018125.4

p.E391K

c.1171G>A

2 papers

NM_018125.4

p.R505Q

c.1514G>A

2 papers

NM_018125.4

p.V562I

c.1684G>A

2 papers

NM_018125.4

p.E655D

c.1965G>C