Varaico: Literature-Extracted Genetic Variants

LIME1

23 papers

RefSeq Summary

This gene encodes a transmembrane adaptor protein that links the T and B-cell receptor stimulation to downstream signaling pathways via its association with the Src family kinases Lck and Lyn, respect...

Pfam Domains

LIME1aa 27–73UCSCLck-interacting transmembrane adapter 1

LIME1aa 27–259UCSCLck-interacting transmembrane adapter 1

Gene Aliases

HGNC Name

Lck interacting transmembrane adaptor 1

HGNC Alias Symbols

FLJ20406; dJ583P15.4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 17 variants

2 papers

NM_017806.4

p.P211L

c.632C>T

2 papers

NM_017806.4

p.V253L

c.757G>C

2 papers

NM_017806.4

p.V253L

c.757G>T

1 paper

NM_017806.4

p.G2W

c.4G>T

1 paper

NM_017806.4

p.L20V

c.58C>G

1 paper

NM_017806.4

p.R33Splc

c.98+2T>C

1 paper

NM_017806.4

p.R45Q

c.134G>A

1 paper

NM_017806.4

p.E80K

c.238G>A

1 paper

NM_017806.4

p.R127G

c.379C>G

1 paper

NM_017806.4

p.R127Q

c.380G>A

1 paper

NM_017806.4

p.V170A

c.509T>C

1 paper

NM_017806.4

p.R173C

c.517C>T