Varaico: Literature-Extracted Genetic Variants

Gene:B9D2

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
1–12 of 27 variants
5 papers
NM_030578.4
p.I11M
c.33A>G
5 papers
NM_030578.4
p.S101R
c.301A>C
5 papers
NM_030578.4
p.S101R
c.303T>G
5 papers
NM_030578.4
p.S101R
c.303T>A
4 papers
NM_030578.4
p.P74S
c.220C>T
3 papers
NM_030578.4
p.H5Q
c.15C>A
3 papers
NM_030578.4
p.G155S
c.463G>A
2 papers
NM_030578.4
p.H5Q
c.15C>G
2 papers
NM_030578.4
p.L36P
c.107T>C
2 papers
NM_030578.4
p.R75Q
c.224G>A
1 paper
NM_030578.4
p.I10T
c.29T>C
1 paper
NM_030578.4
p.W25S
c.74G>C
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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."