Varaico: Literature-Extracted Genetic Variants

Gene:LRRC8D
Variant:p.K560fs

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.K560fs
c.1678_1679fs
Surrounding Variants
1 paper
NM_001134479.2
p.Y557H
c.1669T>C
1 paper
NM_001134479.2
p.E564V
c.1691A>T
1 paper
NM_001134479.2
p.G580E
c.1739G>A
1 paper
NM_001134479.2
p.H594H
c.1782C>T
1 paper
NM_001134479.2
p.H612Q
c.1836T>A
1 paper
NM_001134479.2
p.H612Q
c.1836T>G
1 paper
NM_001134479.2
p.L497R
c.1490T>G
1 paper
NM_001134479.2
p.S630N
c.1889G>A
1 paper
NM_001134479.2
p.M634I
c.1902G>A
1 paper
NM_001134479.2
p.M634I
c.1902G>C
1 paper
NM_001134479.2
p.M634I
c.1902G>T
1 paper
NM_001134479.2
p.C645W
c.1935T>G
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