Varaico: Literature-Extracted Genetic Variants

SYDE1

40 papers

RefSeq Summary

The protein encoded by this gene is a Rho GTPase-activating protein highly expressed in placenta. The encoded protein is involved in cytoskeletal remodeling and trophoblast cell migration. Decreased e...

Pfam Domains

C2_SYDEaa 265–385UCSCC2 domain of synapse defective Rho GAP protein

RhoGAPaa 414–566UCSCRhoGAP domain

Gene Aliases

HGNC Name

synapse defective Rho GTPase activating protein 1

HGNC Alias Symbols

7h3; FLJ13511; SYD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_033025.6

p.Y465*

c.1395C>G

Surrounding Variants

1 paper

NM_033025.6

p.Y465*

c.1395C>A

1 paper

NM_033025.6

p.P466H

c.1397C>A

1 paper

NM_033025.6

p.I468M

c.1404C>G

1 paper

NM_033025.6

p.C438W

c.1314T>G

1 paper

NM_033025.6

p.G473Splc

c.1418-15A>G

1 paper

NM_033025.6

p.V507L

c.1519G>C

1 paper

NM_033025.6

p.P522Q

c.1565C>A

1 paper

NM_033025.6

p.R430_V431Splc

c.1290+7A>C

1 paper

NM_033025.6

p.P399H

c.1196C>A

1 paper

NM_033025.6

p.S382*

c.1145C>A

1 paper

NM_033025.6

p.P371P

c.1113T>G

1 paper

NM_033025.6

p.T530P

c.1588A>C