Varaico: Literature-Extracted Genetic Variants

BBS7

239 papers

RefSeq Summary

This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary ...

Pfam Domains

Beta-prop_BBS7aa 21–319UCSCBBS7 beta-propeller

BBS7_GAEaa 377–486UCSCBBS7 GAE domain

BBS7_pfaa 494–596UCSCBBS7 platform domain

BBS7_hpaa 599–712UCSCBBS7 hairpin

Gene Aliases

HGNC Name

Bardet-Biedl syndrome 7

HGNC Alias Symbols

FLJ10715; BBS2L1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 280 variants

20 papers

NM_176824.3

p.T211I

c.632C>T

11 papers

NM_176824.3

p.R238_G239delFs

c.712_715del4

11 papers

NM_176824.3

p.C243Y

c.728G>A

11 papers

NM_176824.3

p.H323R

c.968A>G

11 papers

NM_176824.3

p.I334delFs

c.1002delA

9 papers

NM_176824.3

p.Q283_M284Splc

c.849+1G>C

8 papers

NM_176824.3

p.G201Splc

c.602-2A>T

7 papers

NM_176824.3

p.L656Fs

c.1967_1968delinsCFs

6 papers

NM_176824.3

p.F712_A715del4

c.2134_2144del12

5 papers

NM_176824.3

p.R96_G97delFs

c.288_289delCT

5 papers

NM_176824.3

p.N130delFs

c.389_390delGT

5 papers

NM_176824.3

p.R238fs

c.712_713fs