Varaico: Literature-Extracted Genetic Variants

LRTM3

13q33.1 (UCSC)GTEx

197 papers

Pfam Domains

CCDC168_Naa 429–542UCSCCoiled-coil domain-containing protein 168

CCDC168_Naa 2276–2348UCSCCoiled-coil domain-containing protein 168

CCDC168_Naa 2784–2932UCSCCoiled-coil domain-containing protein 168

CCDC168_Naa 3515–3634UCSCCoiled-coil domain-containing protein 168

CCDC168_Naa 3640–3698UCSCCoiled-coil domain-containing protein 168

CCDC168_Naa 3659–3808UCSCCoiled-coil domain-containing protein 168

Gene Aliases

HGNC Name

leucine rich repeat transmembrane protein 3

HGNC Previous Symbols

C13orf40; CCDC168

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001146197.3

p.I2070T

c.6209T>C

Surrounding Variants

1 paper

NM_001146197.3

p.R2093H

c.6278G>A

1 paper

NM_001146197.3

p.N2100insFs

c.6299_6300insA

1 paper

NM_001146197.3

p.S2108F

c.6323C>T

5 papers

NM_001146197.3

p.E2111Q

c.6331G>C

1 paper

NM_001146197.3

p.T2113S

c.6337A>T

1 paper

NM_001146197.3

p.P2024L

c.6071C>T

1 paper

NM_001146197.3

p.Q2117_K2118del2

c.6349_6353del6

1 paper

NM_001146197.3

p.R2006H

c.6017G>A

1 paper

NM_001146197.3

p.R2006C

c.6016C>T

1 paper

NM_001146197.3

p.E2136Q

c.6406G>C

2 papers

NM_001146197.3

p.R2140Q

c.6419G>A

1 paper

NM_001146197.3

p.M1993fs

c.5977_5978fs