Varaico: Literature-Extracted Genetic Variants

SYNGAP1

356 papers

RefSeq Summary

This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology d...

Pfam Domains

PH_RASGAPaa 123–250UCSCPH domain-like

C2aa 262–365UCSCC2 domain

RasGAPaa 464–540UCSCGTPase-activator protein for Ras-like GTPase

RasGAPaa 532–635UCSCGTPase-activator protein for Ras-like GTPase

DAB2P_Caa 718–1319UCSCDisabled homolog 2-interacting protein, C-terminal domain

Gene Aliases

HGNC Name

synaptic Ras GTPase activating protein 1

HGNC Alias Symbols

RASA5; KIAA1938

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006772.3

p.G1124*

c.3370G>T

Surrounding Variants

1 paper

NM_006772.3

p.G1128A

c.3383G>C

2 papers

NM_006772.3

p.I1115T

c.3344T>C

3 papers

NM_006772.3

p.Q1136insFs

c.3406dupC

1 paper

NM_006772.3

p.Q1136*

c.3406C>T

4 papers

NM_006772.3

p.Q1136fs

c.3406_3407fs

5 papers

NM_006772.3

p.Q1136_H1137Splc

c.3408+1G>A

2 papers

NM_006772.3

p.Q1136_H1137Splc

c.3408+1G>T

1 paper

NM_006772.3

p.Q1106*

c.3316C>T

1 paper

NM_006772.3

p.R1103C

c.3307C>T

1 paper

NM_006772.3

p.P1101_A1102ins3

c.3303_3304ins9

1 paper

NM_006772.3

p.Y1099fs

c.3295_3296fs

1 paper

NM_006772.3

p.Y1099delFs

c.3295delT