Varaico: Literature-Extracted Genetic Variants

LTN1

69 papers

RefSeq Summary

Like most RING finger proteins, LTN1 functions as an E3 ubiquitin ligase (Chu et al., 2009 [PubMed 19196968]).[supplied by OMIM, Nov 2010].

Pfam Domains

Ltn1_1staa 60–370UCSCE3 ubiquitin-protein ligase listerin, N-terminal domain

LTN1_E3_ligase_5thaa 1171–1352UCSCListerin HEAT repeat region

LTN1_E3_ligase_6thaa 1376–1615UCSCLTN1 family HEAT repeat region

UBC_likeaa 1624–1708UCSCUbiquitin conjugating domain-like

Gene Aliases

HGNC Name

listerin E3 ubiquitin protein ligase 1

HGNC Previous Symbols

C21orf98; C21orf10; ZNF294; RNF160

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015565.3

p.S531*

c.1592C>A

Surrounding Variants

1 paper

NM_015565.3

p.S531*

c.1592C>G

2 papers

NM_015565.3

p.N536fs

c.1606_1607fs

2 papers

NM_015565.3

p.N536delFs

c.1607delT

1 paper

NM_015565.3

p.S495delFs

c.1485delT

1 paper

NM_015565.3

p.S579del1

c.1735_1736delTGA

1 paper

NM_015565.3

p.D476Y

c.1426G>T

1 paper

NM_015565.3

p.A461G

c.1382C>G

1 paper

NM_015565.3

p.N458K

c.1374C>G

1 paper

NM_015565.3

p.E611*

c.1831G>T

1 paper

NM_015565.3

p.L446F

c.1336C>T

1 paper

NM_015565.3

p.L617F

c.1849C>T

1 paper

NM_015565.3

p.L662V

c.1984T>G