Varaico: Literature-Extracted Genetic Variants

B9D1

48 papers

RefSeq Summary

This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel synd...

Pfam Domains

B9-C2aa 1–43UCSCCiliary basal body-associated, B9 protein

B9-C2aa 11–168UCSCCiliary basal body-associated, B9 protein

Gene Aliases

HGNC Name

B9 domain containing 1

HGNC Alias Symbols

B9; EPPB9; MKS9; MKSR-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_015681.6

p.R156Q

c.467G>A

Surrounding Variants

1 paper

NM_015681.6

p.R156P

c.467G>C

3 papers

NM_015681.6

p.R156W

c.466C>T

1 paper

NM_015681.6

p.K148_G155delFs

c.442_463del22

1 paper

NM_015681.6

p.R141Q

c.422G>A

1 paper

NM_015681.6

p.M138_R140delFs

c.414_418del5

1 paper

NM_015681.6

p.R140Q

c.419G>A

1 paper

NM_001321214.2

p.I165fs

c.493_494fs

1 paper

NM_001321214.2

p.I165delFs

c.493delT

2 papers

NM_015681.6

p.V158Splc

c.473-52G>T

NM_001321214.2

p.W170C

c.510G>T

2 papers

NM_001321214.2

p.W170C

c.510G>C

1 paper

NM_001321214.2

p.W170del1

c.508_510delCCA

1 paper

NM_001321214.2

p.C174del1

c.520_522delGCA