Varaico: Literature-Extracted Genetic Variants

SYNE2

405 papers

RefSeq Summary

The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural ...

Pfam Domains

CHaa 31–137UCSCCalponin homology (CH) domain

CHaa 181–287UCSCCalponin homology (CH) domain

Spectrin_SYNE1aa 494–670UCSCNesprin-1, spectrin repeats

Gene Aliases

HGNC Name

spectrin repeat containing nuclear envelope protein 2

HGNC Alias Symbols

SYNE-2; DKFZP434H2235; Nesprin-2; NUANCE; NUA; KIAA1011; Nesp2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 637 variants

8 papers

NM_182914.3

p.W4001*

c.12002G>A

8 papers

NM_182914.3

p.W4001*

c.12003G>A

6 papers

NM_182914.3

p.T6211M

c.18632C>T

5 papers

NM_182914.3

p.I574T

c.1721T>C

5 papers

NM_182914.3

p.P4733T

c.14197C>A

4 papers

NM_182914.3

p.R1393W

c.4177C>T

4 papers

NM_182914.3

p.T2126I

c.6377C>T

4 papers

NM_182914.3

p.A2284V

c.6851C>T

4 papers

NM_182914.3

p.E2388K

c.7162G>A

4 papers

NM_182914.3

p.N3982H

c.11944A>C

4 papers

NM_182914.3

p.W4001R

c.12001T>A

4 papers

NM_182914.3

p.W4001R

c.12001T>C