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.Y1219delFs

c.3655delT

Surrounding Variants

1 paper

NM_006772.3

p.Y1219fs

c.3655_3656fs

1 paper

NM_006772.3

p.Y1219_E1220delFs

c.3657_3658delTG

3 papers

NM_006772.3

p.Y1219*

c.3657T>A

3 papers

NM_006772.3

p.Y1219*

c.3657T>G

1 paper

NM_006772.3

p.R1221W

c.3661C>T

1 paper

NM_006772.3

p.R1214Q

c.3641G>A

1 paper

NM_006772.3

p.L1223insFs

c.3668_3669insG

1 paper

NM_006772.3

p.L1224L

c.3670C>T

1 paper

NM_006772.3

p.S1212_N1213delFs

c.3635_3638del4

1 paper

NM_006772.3

p.Q1226*

c.3676C>T

1 paper

NM_006772.3

p.E1228K

c.3682G>A

2 papers

NM_006772.3

p.E1228_Q1229delFs

c.3683_3686del4