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

1–12 of 370 variants

16 papers

NM_012309.5

p.R841*

c.2521C>T

8 papers

NM_012309.5

p.V717F

c.2149G>T

7 papers

NM_012309.5

p.L1722P

c.5165T>C

6 papers

NM_012309.5

p.S557N

c.1670G>A

6 papers

NM_012309.5

p.Y967C

c.2900A>G

5 papers

NM_012309.5

p.R598L

c.1793G>T

5 papers

NM_133266.5

p.Y29*

c.87C>G

5 papers

NM_133266.5

p.Y29*

c.87C>A

5 papers

NM_012309.5

p.K632insFs

c.1896dupA

5 papers

NM_012309.5

p.D633fs

c.1897_1898fs

5 papers

NM_012309.5

p.E1162K

c.3484G>A

5 papers

NM_012309.5

p.G1170R

c.3508G>C