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.S1763S

c.5289G>A

Surrounding Variants

1 paper

NM_133266.5

p.P1184S

c.3550C>T

1 paper

NM_012309.5

p.S1734del1

c.5200_5202delAGA

4 papers

NM_012309.5

p.A1731S

c.5191G>T

1 paper

NM_012309.5

p.A1731T

c.5191G>A

2 papers

NM_012309.5

p.A1729T

c.5185G>A

3 papers

NM_012309.5

p.L1800W

c.5399T>G

2 papers

NM_133266.5

p.L1138delFs

c.3412_3413delAG

1 paper

NM_133266.5

p.L1138V

c.3412C>G

1 paper

NM_012309.5

p.G1801_E1802del2

c.5401_5405del6

7 papers

NM_012309.5

p.L1722P

c.5165T>C

1 paper

NM_012309.5

p.A1806V

c.5417C>T

2 papers

NM_012309.5

p.M1717I

c.5151G>T