Varaico: Literature-Extracted Genetic Variants

Gene:B9D2
Variant:p.P49S

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
1 paper
NM_030578.4
p.P49S
c.145C>T
Surrounding Variants
1 paper
NM_030578.4
p.Q50*
c.148C>T
1 paper
NM_030578.4
p.D47V
c.140A>T
1 paper
NM_030578.4
p.D53_W57del0
c.157_171del15
2 papers
NM_030578.4
p.L36P
c.107T>C
1 paper
NM_030578.4
p.A32T
c.94G>A
1 paper
NM_030578.4
p.Q71fs
c.211_212fs
1 paper
NM_030578.4
p.G72Splc
c.215-1G>T
1 paper
NM_030578.4
p.W73fs
c.217_218fs
4 papers
NM_030578.4
p.P74S
c.220C>T
1 paper
NM_030578.4
p.R75W
c.223C>T
2 papers
NM_030578.4
p.R75Q
c.224G>A
1 paper
NM_030578.4
p.F96Y
c.287T>A
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