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

7 papers

NM_001146197.3

p.N1704H

c.5110A>C

Surrounding Variants

1 paper

NM_001146197.3

p.F1696L

c.5088T>G

1 paper

NM_001146197.3

p.F1696L

c.5088T>A

1 paper

NM_001146197.3

p.F1696L

c.5086T>C

1 paper

NM_001146197.3

p.L1739F

c.5217G>T

1 paper

NM_001146197.3

p.L1739F

c.5217G>C

1 paper

NM_001146197.3

p.E1645K

c.4933G>A

1 paper

NM_001146197.3

p.I1766F

c.5296A>T

1 paper

NM_001146197.3

p.V1600_P1602delFs

c.4799_4805del7

1 paper

NM_001146197.3

p.V1600fs

c.4798_4799fs

1 paper

NM_001146197.3

p.S1595C

c.4783A>T

1 paper

NM_001146197.3

p.Q1820*

c.5458C>T

3 papers

NM_001146197.3

p.A1822P

c.5464G>C