Varaico: Literature-Extracted Genetic Variants

SUN2

82 papers

RefSeq Summary

SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a 'bridge' across the nuclear envelope, known as the LINC ...

Pfam Domains

HTH_SUN2aa 481–538UCSCSUN2 helix-turn-helix domain

Sad1_UNCaa 581–692UCSCSad1 / UNC-like C-terminal

Sad1_UNCaa 581–715UCSCSad1 / UNC-like C-terminal

Gene Aliases

HGNC Name

Sad1 and UNC84 domain containing 2

HGNC Previous Symbol

UNC84B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015374.3

p.A419V

c.1256C>T

Surrounding Variants

2 papers

NM_015374.3

p.E438D

c.1314A>T

2 papers

NM_015374.3

p.E438D

c.1314A>C

1 paper

NM_015374.3

p.Q444E

c.1330C>G

1 paper

NM_015374.3

p.V449L

c.1345G>T

1 paper

NM_015374.3

p.V449L

c.1345G>C

1 paper

NM_015374.3

p.F464F

c.1392C>T

1 paper

NM_015374.3

p.L465H

c.1394T>A

1 paper

NM_015374.3

p.R486G

c.1456C>G

1 paper

NM_015374.3

p.G545E

c.1634G>A

4 papers

NM_015374.3

p.V378I

c.1132G>A

1 paper

NM_015374.3

p.W582C

c.1746G>T

1 paper

NM_015374.3

p.W582C

c.1746G>C