Varaico: Literature-Extracted Genetic Variants

Gene:SUN1
Variant:p.Q125delFs

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.Q125delFs
c.374delA
Surrounding Variants
1 paper
NM_001130965.3
p.Q125*
c.373C>T
1 paper
NM_001130965.3
p.A127T
c.379G>A
1 paper
NM_001130965.3
p.V122V
c.366C>T
1 paper
NM_001130965.3
p.T121_V122ins1
c.363_364insACA
8 papers
NM_001130965.3
p.H118Y
c.352C>T
2 papers
NM_001130965.3
p.V116I
c.346G>A
1 paper
NM_001130965.3
p.V116delFs
c.347delT
1 paper
NM_001130965.3
p.L135_D136del2
c.403_407del6
1 paper
NM_001130965.3
p.S113A
c.337T>G
2 papers
NM_001130965.3
p.T112M
c.335C>T
1 paper
NM_001130965.3
p.S138A
c.412T>G
1 paper
NM_001130965.3
p.V111V
c.333C>G
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