Varaico: Literature-Extracted Genetic Variants

Gene:CD207
Variant:p.Q136E

CD207

82 papers

RefSeq Summary

The protein encoded by this gene is expressed only in Langerhans cells which are immature dendritic cells of the epidermis and mucosa. It is localized in the Birbeck granules, organelles present in th...

Pfam Domains

Lectin_Caa 212–321UCSCLectin C-type domain

Gene Aliases

HGNC Name

CD207 molecule

HGNC Alias Symbols

Langerin; CLEC4K

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_015717.5
p.Q136E
c.406C>G
Surrounding Variants
1 paper
NM_015717.5
p.A135T
c.403G>A
1 paper
NM_015717.5
p.L116L
c.348G>T
2 papers
NM_015717.5
p.E114V
c.341A>T
1 paper
NM_015717.5
p.N113S
c.338A>G
1 paper
NM_015717.5
p.N98_A104del0
c.294_311del18
1 paper
NM_015717.5
p.A104T
c.310G>A
1 paper
NM_015717.5
p.S99G
c.295A>G
1 paper
NM_015717.5
p.A173fs
c.517_518fs
1 paper
NM_015717.5
p.S159_A173del15
c.475_518del45
2 papers
NM_015717.5
p.A173_L174delFs
c.519_520delGT
1 paper
NM_015717.5
p.K97K
c.291G>A
1 paper
NM_015717.5
p.A173_L174del2
c.517_521del6
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