Varaico: Literature-Extracted Genetic Variants

LMO7

74 papers

RefSeq Summary

This gene encodes a protein containing a calponin homology (CH) domain, a PDZ domain, and a LIM domain, and may be involved in protein-protein interactions. Several alternatively spliced transcript va...

Pfam Domains

DUF4757aa 9–106UCSCDomain of unknown function (DUF4757)

CHaa 14–126UCSCCalponin homology (CH) domain

DUF4757aa 350–502UCSCDomain of unknown function (DUF4757)

PDZaa 758–834UCSCPDZ domain

LIMaa 1562–1624UCSCLIM domain

Gene Aliases

HGNC Name

LIM domain 7

HGNC Previous Symbol

FBXO20

Papers

RefSeq ID

Protein change

DNA change

1–12 of 64 variants

3 papers

NM_001306080.2

p.R1327H

c.3980G>A

2 papers

NM_001306080.2

p.R537K

c.1610G>A

2 papers

NM_001306080.2

p.V1162A

c.3485T>C

1 paper

NM_001306080.2

p.D47V

c.140A>T

1 paper

NM_001306080.2

p.L63P

c.188T>C

1 paper

NM_001306080.2

p.L90R

c.269T>G

1 paper

NM_001306080.2

p.I119I

c.357A>T

1 paper

NM_001306080.2

p.F161del1

c.481_482delTTC

1 paper

NM_001306080.2

p.F161I

c.481T>A

1 paper

NM_001306080.2

p.R164fs

c.490_491fs

1 paper

NM_001306080.2

p.G166D

c.497G>A

1 paper

NM_001306080.2

p.R204G

c.610A>G