Varaico: Literature-Extracted Genetic Variants

SHANK2

223 papers

RefSeq Summary

This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contai...

Pfam Domains

FERM_f0aa 57–133UCSCN-terminal or F0 domain of Talin-head FERM

Ank_2aa 168–261UCSCAnkyrin repeats (3 copies)

Ank_2aa 209–295UCSCAnkyrin repeats (3 copies)

Ank_2aa 302–393UCSCAnkyrin repeats (3 copies)

SH3_2aa 530–583UCSCVariant SH3 domain

PDZ_6aa 664–718UCSCPDZ domain

Gene Aliases

HGNC Name

SH3 and multiple ankyrin repeat domains 2

HGNC Previous Symbol

CORTBP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012309.5

p.V1188delFs

c.3564delC

Surrounding Variants

1 paper

NM_012309.5

p.A1191T

c.3571G>A

1 paper

NM_012309.5

p.G1199E

c.3596G>A

5 papers

NM_012309.5

p.G1170R

c.3508G>C

5 papers

NM_012309.5

p.G1170R

c.3508G>A

5 papers

NM_012309.5

p.E1162K

c.3484G>A

2 papers

NM_133266.5

p.L632insFs

c.1896dupC

2 papers

NM_012309.5

p.P1144L

c.3431C>T

1 paper

NM_012309.5

p.P1234S

c.3700C>T

1 paper

NM_133266.5

p.E551K

c.1651G>A

1 paper

NM_012309.5

p.E1129E

c.3387G>A

2 papers

NM_012309.5

p.P1127L

c.3380C>T

1 paper

NM_012309.5

p.P1123fs

c.3367_3368fs