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.G561R

c.1681G>A

Surrounding Variants

1 paper

NM_012309.5

p.G561G

c.1683G>A

1 paper

NM_012309.5

p.G559S

c.1675G>A

6 papers

NM_012309.5

p.S557N

c.1670G>A

1 paper

NM_012309.5

p.A568T

c.1702G>A

4 papers

NM_012309.5

p.R569H

c.1706G>A

1 paper

NM_012309.5

p.P576L

c.1727C>T

1 paper

NM_012309.5

p.P576Q

c.1727C>A

1 paper

NM_012309.5

p.A577V

c.1730C>T

3 papers

NM_012309.5

p.P587S

c.1759C>T

1 paper

NM_012309.5

p.E593Splc

c.1777+77C>T

1 paper

NM_012309.5

p.V555Splc

c.1663+61G>A

1 paper

NM_012309.5

p.V555I

c.1663G>A