Varaico: Literature-Extracted Genetic Variants

Gene:LRRC8D
Variant:p.F148L

LRRC8D

41 papers

Pfam Domains

Pannexin_likeaa 1–384UCSCPannexin-like TM region of LRRC8
LRR_8aa 635–695UCSCLeucine rich repeat
LRR_8aa 683–741UCSCLeucine rich repeat

Gene Aliases

HGNC Name

leucine rich repeat containing 8 VRAC subunit D

HGNC Alias Symbol

FLJ10470

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001134479.2
p.F148L
c.442T>C
Surrounding Variants
1 paper
NM_001134479.2
p.D142Y
c.424G>T
1 paper
NM_001134479.2
p.A157S
c.469G>T
1 paper
NM_001134479.2
p.R137Q
c.410G>A
1 paper
NM_001134479.2
p.D220Y
c.658G>T
1 paper
NM_001134479.2
p.N224K
c.672C>A
1 paper
NM_001134479.2
p.N224K
c.672C>G
1 paper
NM_001134479.2
p.Q232H
c.696G>C
1 paper
NM_001134479.2
p.Q232H
c.696G>T
1 paper
NM_001134479.2
p.S242R
c.724A>C
1 paper
NM_001134479.2
p.S242R
c.726T>A
1 paper
NM_001134479.2
p.S242R
c.726T>G
1 paper
NM_001134479.2
p.V267L
c.799G>C
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