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.Q271_A272Splc

c.813+541A>G

Surrounding Variants

1 paper

NM_015374.3

p.T240K

c.719C>A

1 paper

NM_015374.3

p.S282A

c.844T>G

1 paper

NM_015374.3

p.S282Y

c.845C>A

1 paper

NM_015374.3

p.R307H

c.920G>A

3 papers

NM_001199579.2

p.R369C

c.1105C>T

NM_015374.3

p.R348C

c.1042C>T

1 paper

NM_015374.3

p.P219P

c.657G>A

4 papers

NM_015374.3

p.V378I

c.1132G>A

2 papers

NM_015374.3

p.R205W

c.613A>T

1 paper

NM_015374.3

p.F201L

c.603C>A

1 paper

NM_015374.3

p.F201L

c.601T>C

1 paper

NM_015374.3

p.T192P

c.574A>C

1 paper

NM_015374.3

p.A419V

c.1256C>T