Varaico: Literature-Extracted Genetic Variants

Gene:LRRC8C
Variant:p.E253D

LRRC8C

71 papers

Pfam Domains

Pannexin_likeaa 1–338UCSCPannexin-like TM region of LRRC8
LRR_8aa 589–649UCSCLeucine rich repeat
LRR_8aa 637–695UCSCLeucine rich repeat

Gene Aliases

HGNC Name

leucine rich repeat containing 8 VRAC subunit C

HGNC Alias Symbol

AD158

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032270.5
p.E253D
c.759A>T
Surrounding Variants
1 paper
NM_032270.5
p.E253D
c.759A>C
1 paper
NM_032270.5
p.A260V
c.779C>T
1 paper
NM_032270.5
p.S285F
c.854C>T
1 paper
NM_032270.5
p.Q288L
c.863A>T
1 paper
NM_032270.5
p.V208G
c.623T>G
9 papers
NM_032270.5
p.D205G
c.614A>G
3 papers
NM_032270.5
p.K304N
c.912A>C
3 papers
NM_032270.5
p.K304N
c.912A>T
1 paper
NM_032270.5
p.D182fs
c.544_545fs
1 paper
NM_032270.5
p.D182delFs
c.544delG
1 paper
NM_032270.5
p.R173W
c.517C>T
1 paper
NM_032270.5
p.T172S
c.514A>T
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