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

8 papers

NM_012309.5

p.V717F

c.2149G>T

Surrounding Variants

1 paper

NM_012309.5

p.T718M

c.2153C>T

4 papers

NM_012309.5

p.A729T

c.2185G>A

1 paper

NM_012309.5

p.T728delFs

c.2184delG

1 paper

NM_012309.5

p.A729V

c.2186C>T

3 papers

NM_133266.5

p.Q112*

c.334C>T

1 paper

NM_012309.5

p.G697G

c.2091C>T

3 papers

NM_012309.5

p.N690S

c.2069A>G

1 paper

NM_012309.5

p.A733Splc

c.2197+43G>C

3 papers

NM_012309.5

p.A733Splc

c.2198-1G>A

3 papers

NM_012309.5

p.P734fs

c.2200_2201fs

1 paper

NM_012309.5

p.R739W

c.2215C>T

1 paper

NM_012309.5

p.S749insFs

c.2246dupC