Varaico: Literature-Extracted Genetic Variants

Gene:MAPRE1

MAPRE1

94 papers

RefSeq Summary

The protein encoded by this gene was first identified by its binding to the APC protein which is often mutated in familial and sporadic forms of colorectal cancer. This protein localizes to microtubul...

Pfam Domains

CHaa 14–120UCSCCalponin homology (CH) domain
EB1aa 210–248UCSCEB1-like C-terminal motif

Gene Aliases

HGNC Name

microtubule associated protein RP/EB family member 1

HGNC Alias Symbol

EB1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
3 papers
NM_012325.3
p.E225A
c.674A>C
2 papers
NM_012325.3
p.K59E
c.175A>G
2 papers
NM_012325.3
p.K60E
c.178A>G
2 papers
NM_012325.3
p.K89E
c.265A>G
2 papers
NM_012325.3
p.N118K
c.354C>A
2 papers
NM_012325.3
p.Y217F
c.650A>T
1 paper
NM_012325.3
p.M1insFs
c.2_3ins5
1 paper
NM_012325.3
p.T8S
c.22A>T
1 paper
NM_012325.3
p.A22T
c.64G>A
1 paper
NM_012325.3
p.K34R
c.101A>G
1 paper
NM_012325.3
p.G41Splc
c.122-2A>G
1 paper
NM_012325.3
p.F63L
c.189C>A
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