Varaico: Literature-Extracted Genetic Variants

Gene:LRRC56
Variant:p.R300H

LRRC56

83 papers

Pfam Domains

LRR_4aa 116–158UCSCLeucine Rich repeats (2 copies)

Gene Aliases

HGNC Name

leucine rich repeat containing 56

HGNC Alias Symbols

FLJ00101; oda8; DKFZp761L1518; DNAAF12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_198075.4
p.R300H
c.899G>A
Surrounding Variants
1 paper
NM_198075.4
p.L304delFs
c.911delT
2 papers
NM_198075.4
p.S296F
c.887C>T
2 papers
NM_198075.4
p.P305H
c.914C>A
1 paper
NM_198075.4
p.A314T
c.940G>A
1 paper
NM_198075.4
p.P315S
c.943C>T
1 paper
NM_198075.4
p.T285T
c.855G>A
2 papers
NM_198075.4
p.T285M
c.854C>T
1 paper
NM_198075.4
p.T319P
c.955A>C
1 paper
NM_198075.4
p.C331R
c.991T>C
1 paper
NM_198075.4
p.K336T
c.1007A>C
1 paper
NM_198075.4
p.R339W
c.1015C>T
1 paper
NM_198075.4
p.Q346_A347Splc
c.1038+5A>G
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