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

7 papers

NM_012309.5

p.L1722P

c.5165T>C

Surrounding Variants

1 paper

NM_133266.5

p.L1138V

c.3412C>G

2 papers

NM_133266.5

p.L1138delFs

c.3412_3413delAG

2 papers

NM_012309.5

p.M1717I

c.5151G>T

2 papers

NM_012309.5

p.M1717I

c.5151G>C

2 papers

NM_012309.5

p.M1717I

c.5151G>A

2 papers

NM_012309.5

p.A1729T

c.5185G>A

1 paper

NM_133266.5

p.T1127I

c.3380C>T

4 papers

NM_012309.5

p.A1731S

c.5191G>T

1 paper

NM_012309.5

p.A1731T

c.5191G>A

1 paper

NM_012309.5

p.S1734del1

c.5200_5202delAGA

2 papers

NM_012309.5

p.D1696N

c.5086G>A

1 paper

NM_012309.5

p.G1683S

c.5047G>A