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.T1322S

c.3964A>T

Surrounding Variants

1 paper

NM_012309.5

p.T1322S

c.3965C>G

1 paper

NM_012309.5

p.D1320D

c.3960C>T

2 papers

NM_012309.5

p.A1327T

c.3979G>A

1 paper

NM_012309.5

p.V1316V

c.3948G>A

2 papers

NM_012309.5

p.Q1308R

c.3923A>G

1 paper

NM_012309.5

p.Q1307*

c.3919C>T

1 paper

NM_012309.5

p.T1305T

c.3915G>A

1 paper

NM_012309.5

p.K1296T

c.3887A>C

2 papers

NM_012309.5

p.E1350K

c.4048G>A

1 paper

NM_012309.5

p.G1351S

c.4051G>A

2 papers

NM_012309.5

p.R1290W

c.3868C>T

1 paper

NM_133266.5

p.R700Q

c.2099G>A