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.I1304F

c.3910A>T

Surrounding Variants

1 paper

NM_015565.3

p.E1309*

c.3925G>T

1 paper

NM_015565.3

p.D1283N

c.3847G>A

1 paper

NM_015565.3

p.A1281T

c.3841G>A

1 paper

NM_015565.3

p.F1392insFs

c.4175_4176insCA

1 paper

NM_015565.3

p.Y1402delFs

c.4206delA

1 paper

NM_015565.3

p.Y1423S

c.4268A>C

1 paper

NM_015565.3

p.H1187_I1194del0

c.3561_3581del21

1 paper

NM_015565.3

p.I1193L

c.3577A>T

1 paper

NM_015565.3

p.I1193L

c.3577A>C

1 paper

NM_015565.3

p.I1180V

c.3538A>G

1 paper

NM_015565.3

p.F1142_S1143insFs

c.3426_3427insA

1 paper

NM_015565.3

p.L1441F

c.4321C>T