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

3 papers

NM_006772.3

p.Q1021*

c.3061C>T

Surrounding Variants

1 paper

NM_006772.3

p.Q1021fs

c.3061_3062fs

1 paper

NM_006772.3

p.R1020fs

c.3058_3059fs

2 papers

NM_006772.3

p.R1020delFs

c.3060delG

2 papers

NM_006772.3

p.R1019C

c.3055C>T

1 paper

NM_006772.3

p.F1017I

c.3049T>A

1 paper

NM_006772.3

p.D1026fs

c.3076_3077fs

1 paper

NM_006772.3

p.D1026delFs

c.3078delC

1 paper

NM_006772.3

p.P1012delFs

c.3036delC

1 paper

NM_006772.3

p.T1038delFs

c.3112delA

4 papers

NM_006772.3

p.R1043_P1044del2

c.3127_3131del6

1 paper

NM_006772.3

p.A998_S999del2

c.2992_2996del6

2 papers

NM_006772.3

p.A1045G

c.3134C>G