Varaico: Literature-Extracted Genetic Variants

Gene:CPXCR1

CPXCR1

24 papers

RefSeq Summary

This gene is one of several genes identified in a region of the X chromosome associated with an X-linked cleft palate (CPX) disorder. The encoded protein contains a motif similar to a motif found in z...

Gene Aliases

HGNC Name

CPX chromosome region candidate 1

HGNC Alias Symbol

CT77

Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
2 papers
NM_033048.6
p.R131H
c.392G>A
1 paper
NM_033048.6
p.T29A
c.85A>G
1 paper
NM_033048.6
p.T57I
c.170C>T
1 paper
NM_033048.6
p.V63I
c.187G>A
1 paper
NM_033048.6
p.I96T
c.287T>C
1 paper
NM_033048.6
p.L100L
c.298T>C
1 paper
NM_033048.6
p.H103R
c.308A>G
1 paper
NM_033048.6
p.N107K
c.321T>A
1 paper
NM_033048.6
p.N107K
c.321T>G
1 paper
NM_033048.6
p.D108V
c.323A>T
1 paper
NM_033048.6
p.R133*
c.397C>T
1 paper
NM_033048.6
p.P141T
c.421C>A
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