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.R327K

c.980G>A

Surrounding Variants

1 paper

NM_033025.6

p.C290Y

c.869G>A

1 paper

NM_033025.6

p.P261Q

c.782C>A

1 paper

NM_033025.6

p.S247F

c.740C>T

1 paper

NM_033025.6

p.P371P

c.1113T>G

1 paper

NM_033025.6

p.A216T

c.646G>A

1 paper

NM_033025.6

p.S382*

c.1145C>A

1 paper

NM_033025.6

p.P399H

c.1196C>A

1 paper

NM_033025.6

p.E190*

c.568G>T

1 paper

NM_033025.6

p.R430_V431Splc

c.1290+7A>C

1 paper

NM_033025.6

p.P147S

c.439C>T

2 papers

NM_033025.6

p.G108S

c.322G>A

1 paper

NM_033025.6

p.P90L

c.269C>T