Varaico: Literature-Extracted Genetic Variants

WDR19

244 papers

RefSeq Summary

The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellul...

Pfam Domains

Beta-prop_WDR19_1staa 17–341UCSCWDR19 first beta-propeller

Beta-prop_WDR19_2ndaa 361–635UCSCWDR19 second beta-propeller

TPR_IF140-IFT172aa 660–1108UCSCIF140/IFT172 TPR domain

Zf_IFT144_1staa 1247–1271UCSCIFT144, first zinc finger domain

Zf_2nd_IFT121aa 1275–1322UCSCIFT121, second zinc finger domain

Gene Aliases

HGNC Name

WD repeat domain 19

HGNC Alias Symbols

Pwdmp; KIAA1638; FLJ23127; ORF26; DYF-2; Oseg6; IFT144; NPHP13; FAP66; CFAP66

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_025132.4

p.H687insFs

c.2061dupT

Surrounding Variants

1 paper

NM_025132.4

p.V697_R699del3

c.2089_2096del9

1 paper

NM_025132.4

p.R699W

c.2095C>T

2 papers

NM_025132.4

p.R699Q

c.2096G>A

2 papers

NM_025132.4

p.C669Y

c.2006G>A

1 paper

NM_025132.4

p.W666*

c.1998G>A

1 paper

NM_025132.4

p.W666*

c.1997G>A

1 paper

NM_025132.4

p.A665P

c.1993G>C

1 paper

NM_025132.4

p.D664G

c.1991A>G

1 paper

NM_025132.4

p.D664delFs

c.1992delT

22 papers

NM_025132.4

p.L710S

c.2129T>C

1 paper

NM_025132.4

p.Q712*

c.2134C>T

3 papers

NM_025132.4

p.R661Splc

c.1983-2A>T