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

1–12 of 80 variants

2 papers

NM_015565.3

p.L403S

c.1208T>C

2 papers

NM_015565.3

p.N536fs

c.1606_1607fs

2 papers

NM_015565.3

p.N536delFs

c.1607delT

2 papers

NM_015565.3

p.A813V

c.2438C>T

1 paper

NM_015565.3

p.M1L

c.1A>T

1 paper

NM_015565.3

p.K6R

c.17A>G

1 paper

NM_015565.3

p.K71*

c.211A>T

1 paper

NM_015565.3

p.D76V

c.227A>T

1 paper

NM_015565.3

p.V99insFs

c.296_297insT

1 paper

NM_015565.3

p.E130K

c.388G>A

1 paper

NM_015565.3

p.K135R

c.404A>G

1 paper

NM_015565.3

p.K145Q

c.433A>C