Varaico: Literature-Extracted Genetic Variants

Gene:LRRC8D
Variant:p.T316P

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.T316P
c.946A>C
Surrounding Variants
1 paper
NM_001134479.2
p.E299A
c.896A>C
1 paper
NM_001134479.2
p.R295C
c.883C>T
1 paper
NM_001134479.2
p.K340*
c.1018A>T
1 paper
NM_001134479.2
p.P341delFs
c.1023delC
1 paper
NM_001134479.2
p.T355del1
c.1063_1064delACC
1 paper
NM_001134479.2
p.M361I
c.1083G>A
1 paper
NM_001134479.2
p.V267L
c.799G>C
1 paper
NM_001134479.2
p.V267L
c.799G>T
1 paper
NM_001134479.2
p.F388fs
c.1162_1163fs
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.S242R
c.724A>C
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