Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.S142G

BEST1

769 papers

RefSeq Summary

This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may...

Pfam Domains

Bestrophinaa 1–324UCSCBestrophin, RFP-TM, chloride channel

Gene Aliases

HGNC Name

bestrophin 1

HGNC Previous Symbol

VMD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_004183.4
p.S142G
c.424A>G
Surrounding Variants
1 paper
NM_004183.4
p.S142C
c.424A>T
81 papers
NM_004183.4
p.R141H
c.422G>A
NM_001139443.2
p.R81H
c.242G>A
10 papers
NM_004183.4
p.R141S
c.421C>A
NM_001139443.2
p.R81S
c.241C>A
2 papers
NM_004183.4
p.R141C
c.421C>T
2 papers
NM_004183.4
p.R141fs
c.421_422fs
7 papers
NM_004183.4
p.V143F
c.427G>T
3 papers
NM_004183.4
p.R141_V143delFs
c.421_428del8
1 paper
NM_004183.4
p.R141_S144del4
c.421_431del12
2 papers
NM_004183.4
p.V143A
c.428T>C
1 paper
NM_004183.4
p.S144_T145del0
c.430_435del6
1 paper
NM_004183.4
p.L140Q
c.419T>A
3 papers
NM_004183.4
p.L140P
c.419T>C
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