Varaico: Literature-Extracted Genetic Variants

Gene:B9D2
Variant:p.G30Splc

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.G30Splc
c.88+16T>G
Surrounding Variants
1 paper
NM_030578.4
p.W25S
c.74G>C
5 papers
NM_030578.4
p.I11M
c.33A>G
1 paper
NM_030578.4
p.I10T
c.29T>C
1 paper
NM_030578.4
p.G30Splc
c.88+102A>G
2 papers
NM_030578.4
p.H5Q
c.15C>G
3 papers
NM_030578.4
p.H5Q
c.15C>A
1 paper
NM_030578.4
p.A32T
c.94G>A
2 papers
NM_030578.4
p.L36P
c.107T>C
1 paper
NM_030578.4
p.D47V
c.140A>T
1 paper
NM_030578.4
p.P49S
c.145C>T
1 paper
NM_030578.4
p.Q50*
c.148C>T
1 paper
NM_030578.4
p.D53_W57del0
c.157_171del15
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