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.A315_L316insFs

c.945_946insC

Surrounding Variants

1 paper

NM_015565.3

p.E318insFs

c.952_953insA

1 paper

NM_015565.3

p.T326insFs

c.977_978insC

1 paper

NM_015565.3

p.L302L

c.904C>T

1 paper

NM_015565.3

p.K296_V297insT

c.886_890ins3

1 paper

NM_015565.3

p.C283Y

c.848G>A

1 paper

NM_015565.3

p.K338insFs

c.1012_1013insT

1 paper

NM_015565.3

p.S339fs

c.1015_1016fs

1 paper

NM_015565.3

p.S339_V340delFs

c.1017_1018delCA

1 paper

NM_015565.3

p.F341insFs

c.1022_1023insT

1 paper

NM_015565.3

p.V390F

c.1168G>T

2 papers

NM_015565.3

p.L403S

c.1208T>C

1 paper

NM_015565.3

p.F412I

c.1234T>A