Varaico: Literature-Extracted Genetic Variants

DLC1

231 papers

RefSeq Summary

This gene encodes a GTPase-activating protein (GAP) that is a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins. GAP family proteins participate...

Pfam Domains

SAM_2aa 451–513UCSCSAM domain (Sterile alpha motif)

RhoGAPaa 1092–1238UCSCRhoGAP domain

STARTaa 1323–1522UCSCSTART domain

Gene Aliases

HGNC Name

DLC1 Rho GTPase activating protein

HGNC Alias Symbols

ARHGAP7; STARD12; DLC-1; p122-RhoGAP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_182643.3

p.S828T

c.2482T>A

Surrounding Variants

1 paper

NM_182643.3

p.V836M

c.2506G>A

1 paper

NM_182643.3

p.F843L

c.2529C>A

1 paper

NM_182643.3

p.S850_R852del0

c.2550_2555del6

1 paper

NM_182643.3

p.R853M

c.2558G>T

2 papers

NM_182643.3

p.E854K

c.2560G>A

1 paper

NM_182643.3

p.D858E

c.2574C>G

1 paper

NM_006094.5

p.Q356*

c.1066C>T

9 papers

NM_182643.3

p.V791M

c.2371G>A

NM_006094.5

p.V354M

c.1060G>A

1 paper

NM_182643.3

p.V790M

c.2368G>A

1 paper

NM_182643.3

p.R866C

c.2596C>T

1 paper

NM_006094.5

p.S431A

c.1291T>G

1 paper

NM_182643.3

p.S869F

c.2606C>T