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.A1253_E1254del2

c.3757_3761del6

Surrounding Variants

1 paper

NM_006772.3

p.Q1252_A1253del2

c.3754_3758del6

1 paper

NM_006772.3

p.Q1258*

c.3772C>T

1 paper

NM_006772.3

p.S1244fs

c.3730_3731fs

1 paper

NM_006772.3

p.K1260*

c.3778A>T

1 paper

NM_006772.3

p.S1244_E1245delFs

c.3732_3735del4

1 paper

NM_006772.3

p.E1242delFs

c.3725delA

1 paper

NM_006772.3

p.I1263fs

c.3787_3788fs

2 papers

NM_006772.3

p.I1263fs

c.3787_3788fs

3 papers

NM_006772.3

p.I1263_R1265delFs

c.3788_3794del7

1 paper

NM_006772.3

p.L1241V

c.3721C>G

2 papers

NM_006772.3

p.L1241delFs

c.3722_3723delTG

2 papers

NM_006772.3

p.L1241fs

c.3721_3722fs