Varaico: Literature-Extracted Genetic Variants

Gene:LIMCH1

LIMCH1

55 papers

Pfam Domains

CHaa 22–126UCSCCalponin homology (CH) domain
DUF4757aa 91–168UCSCDomain of unknown function (DUF4757)
DUF4757aa 250–418UCSCDomain of unknown function (DUF4757)
DUF4757aa 648–803UCSCDomain of unknown function (DUF4757)
LIMaa 910–972UCSCLIM domain

Gene Aliases

HGNC Name

LIM and calponin homology domains 1

HGNC Alias Symbols

DKFZP686A01247; LIMCH1A; LMO7B

Papers
RefSeq ID
Protein change
DNA change
1–12 of 59 variants
2 papers
NM_001330672.2
p.S334fs
c.1000_1001fs
2 papers
NM_001330672.2
p.R337insFs
c.1009dupA
1 paper
NM_001112719.4
p.V7insFs
c.20_21insG
1 paper
NM_001112719.4
p.K8fs
c.22_23fs
1 paper
NM_001112719.4
p.I20_R21insG
c.58_62ins3
1 paper
NM_001330672.2
p.R36C
c.106C>T
1 paper
NM_001330672.2
p.D85_V86delFs
c.255_256delTG
1 paper
NM_001330672.2
p.S97P
c.289T>C
1 paper
NM_001330672.2
p.H98Fs
c.292delinsATFs
1 paper
NM_001330672.2
p.S184P
c.550T>C
1 paper
NM_001330672.2
p.S184F
c.551C>T
1 paper
NM_001330672.2
p.D185H
c.553G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."