Varaico: Literature-Extracted Genetic Variants

LIN54

51 papers

RefSeq Summary

LIN54 is a component of the LIN, or DREAM, complex, an essential regulator of cell cycle genes (Schmit et al., 2009 [PubMed 19725879]).[supplied by OMIM, Dec 2010].

Pfam Domains

TCRaa 522–558UCSCTesmin/TSO1-like CXC domain, cysteine-rich domain

TCRaa 596–633UCSCTesmin/TSO1-like CXC domain, cysteine-rich domain

Gene Aliases

HGNC Name

lin-54 DREAM MuvB core complex component

HGNC Alias Symbols

MIP120; DKFZp686L1814; JC8.6; CXCDC1; TCX1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_194282.4

p.S173P

c.517T>C

Surrounding Variants

1 paper

NM_194282.4

p.Q170H

c.510G>T

2 papers

NM_194282.4

p.T169A

c.505A>G

1 paper

NM_194282.4

p.A155V

c.464C>T

1 paper

NM_194282.4

p.P192_E193insCT

c.574_578ins6

1 paper

NM_194282.4

p.I152V

c.454A>G

1 paper

NM_194282.4

p.T144A

c.430A>G

1 paper

NM_194282.4

p.L203L

c.607T>C

1 paper

NM_194282.4

p.I141I

c.423T>A

1 paper

NM_194282.4

p.T204S

c.611C>G

1 paper

NM_194282.4

p.S207S

c.621T>C

1 paper

NM_194282.4

p.G137G

c.411A>T

1 paper

NM_194282.4

p.S124P

c.370T>C