Varaico: Literature-Extracted Genetic Variants

SUN1

114 papers

RefSeq Summary

This gene is a member of the unc-84 homolog family and encodes a nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced ...

Pfam Domains

MRPaa 62–291UCSCMitochondrial RNA binding protein MRP

HTH_SUN2aa 547–605UCSCSUN2 helix-turn-helix domain

Sad1_UNCaa 648–783UCSCSad1 / UNC-like C-terminal

Gene Aliases

HGNC Name

Sad1 and UNC84 domain containing 1

HGNC Previous Symbol

UNC84A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_001130965.3

p.L530P

c.1589T>C

Surrounding Variants

1 paper

NM_001130965.3

p.G527A

c.1580G>C

3 papers

NM_001130965.3

p.T549M

c.1646C>T

1 paper

NM_001130965.3

p.V578A

c.1733T>C

1 paper

NM_001130965.3

p.G586G

c.1758G>T

1 paper

NM_001130965.3

p.L605L

c.1813C>T

1 paper

NM_001130965.3

p.L605L

c.1815G>T

1 paper

NM_001130965.3

p.G612R

c.1834G>A

1 paper

NM_001130965.3

p.S491N

c.1472G>A

1 paper

NM_001130965.3

p.K486N

c.1458G>C

1 paper

NM_001130965.3

p.K486N

c.1458G>T

2 papers

NM_001130965.3

p.E476K

c.1426G>A

1 paper

NM_001130965.3

p.T474_E476delins

c.1422_1426delinsGGTCA