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

1–12 of 46 variants

6 papers

NM_015374.3

p.G671S

c.2011G>A

4 papers

NM_015374.3

p.V378I

c.1132G>A

3 papers

NM_015374.3

p.T33A

c.97A>G

3 papers

NM_015374.3

p.L89R

c.266T>G

3 papers

NM_015374.3

p.R620C

c.1858C>T

2 papers

NM_015374.3

p.M50T

c.149T>C

2 papers

NM_015374.3

p.S54F

c.161C>T

2 papers

NM_015374.3

p.R205W

c.613A>T

2 papers

NM_015374.3

p.R348C

c.1042C>T

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.R10C

c.28C>T