Varaico: Literature-Extracted Genetic Variants

Gene:VWA5B1
Variant:p.V1048L

VWA5B1

94 papers

Gene Aliases

HGNC Name

von Willebrand factor A domain containing 5B1

HGNC Alias Symbol

FLJ32784

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001039500.3
p.V1048L
c.3142G>T
Surrounding Variants
1 paper
NM_001039500.3
p.V1048L
c.3142G>C
1 paper
NM_001039500.3
p.A1056D
c.3167C>A
3 papers
NM_001039500.3
p.E1061K
c.3181G>A
1 paper
NM_001039500.3
p.H1068fs
c.3202_3203fs
1 paper
NM_001039500.3
p.H1068insFs
c.3203_3204ins5
1 paper
NM_001039500.3
p.M1071R
c.3212T>G
1 paper
NM_001039500.3
p.S1098N
c.3293G>A
1 paper
NM_001039500.3
p.G1123S
c.3367G>A
1 paper
NM_001039500.3
p.T1142M
c.3425C>T
2 papers
NM_001039500.3
p.A1147E
c.3440C>A
1 paper
NM_001039500.3
p.A1164T
c.3490G>A
1 paper
NM_001039500.3
p.R1180fs
c.3538_3539fs
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