Varaico: Literature-Extracted Genetic Variants

Gene:B9D2
Variant:p.S101R

B9D2

36 papers

RefSeq Summary

This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies ...

Pfam Domains

B9-C2aa 4–164UCSCCiliary basal body-associated, B9 protein

Gene Aliases

HGNC Name

B9 domain containing 2

HGNC Alias Symbols

MGC4093; MKS10; MKSR-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_030578.4
p.S101R
c.303T>A
Surrounding Variants
5 papers
NM_030578.4
p.S101R
c.303T>G
5 papers
NM_030578.4
p.S101R
c.301A>C
1 paper
NM_030578.4
p.F96Y
c.287T>A
2 papers
NM_030578.4
p.R75Q
c.224G>A
1 paper
NM_030578.4
p.R75W
c.223C>T
4 papers
NM_030578.4
p.P74S
c.220C>T
1 paper
NM_030578.4
p.W73fs
c.217_218fs
1 paper
NM_030578.4
p.G72Splc
c.215-1G>T
1 paper
NM_030578.4
p.R146H
c.437G>A
3 papers
NM_030578.4
p.G155S
c.463G>A
1 paper
NM_030578.4
p.R166C
c.496C>T
1 paper
NM_030578.4
p.V157_Y171del15
c.469_512del45
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."