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

1 paper

NM_001130965.3

p.T97delFs

c.289_290delAC

Surrounding Variants

1 paper

NM_001130965.3

p.R94R

c.282C>G

1 paper

NM_001130965.3

p.R94H

c.281G>A

1 paper

NM_001130965.3

p.R94_S96del3

c.280_287del9

1 paper

NM_001130965.3

p.Q93P

c.278A>C

1 paper

NM_001130965.3

p.K99I

c.296A>T

1 paper

NM_001130965.3

p.T91A

c.271A>G

1 paper

NM_001130965.3

p.T91_T97del7

c.271_290del21

1 paper

NM_001130965.3

p.N105S

c.314A>G

1 paper

NM_001130965.3

p.S108L

c.323C>T

1 paper

NM_001130965.3

p.R109W

c.325A>T

1 paper

NM_001130965.3

p.V111V

c.333C>G

2 papers

NM_001130965.3

p.T112M

c.335C>T