Varaico: Literature-Extracted Genetic Variants

SHANK1

178 papers

RefSeq Summary

This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and functio...

Pfam Domains

Ank_2aa 183–277UCSCAnkyrin repeats (3 copies)

Ank_2aa 318–409UCSCAnkyrin repeats (3 copies)

SH3_2aa 559–611UCSCVariant SH3 domain

PDZ_6aa 701–754UCSCPDZ domain

SAM_1aa 2096–2159UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

SH3 and multiple ankyrin repeat domains 1

HGNC Alias Symbols

SSTRIP; SPANK-1; synamon

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_016148.5

p.R736Q

c.2207G>A

Surrounding Variants

1 paper

NM_016148.5

p.R736*

c.2206C>T

1 paper

NM_016148.5

p.G734S

c.2200G>A

1 paper

NM_016148.5

p.R743H

c.2228G>A

1 paper

NM_016148.5

p.N726delFs

c.2178delG

1 paper

NM_016148.5

p.V725A

c.2174T>C

1 paper

NM_016148.5

p.M755_V756ins0

c.2265_2267dupGGT

1 paper

NM_016148.5

p.P760L

c.2279C>T

1 paper

NM_016148.5

p.P778L

c.2333C>T

1 paper

NM_016148.5

p.P778P

c.2334G>A

2 papers

NM_016148.5

p.R713*

c.2137C>T

1 paper

NM_016148.5

p.D706N

c.2116G>A

1 paper

NM_016148.5

p.P694L

c.2081C>T