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.Q1082delFs

c.3245delA

Surrounding Variants

1 paper

NM_006772.3

p.Q1082fs

c.3244_3245fs

1 paper

NM_006772.3

p.R1085delFs

c.3253delC

2 papers

NM_006772.3

p.R1085fs

c.3253_3254fs

2 papers

NM_006772.3

p.V1078fs

c.3232_3233fs

4 papers

NM_006772.3

p.V1078fs

c.3232_3233fs

5 papers

NM_006772.3

p.V1078_S1079delFs

c.3233_3236del4

2 papers

NM_006772.3

p.L1076*

c.3227T>A

1 paper

NM_006772.3

p.L1076fs

c.3226_3227fs

2 papers

NM_006772.3

p.L1076delFs

c.3227delT

2 papers

NM_006772.3

p.S1073delFs

c.3219delT

1 paper

NM_006772.3

p.L1091insFs

c.3272_3273insT

2 papers

NM_006772.3

p.K1072fs

c.3214_3215fs