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

7 papers

NM_025132.4

p.N273D

c.817A>G

Surrounding Variants

1 paper

NM_025132.4

p.R272C

c.814C>T

2 papers

NM_025132.4

p.A271V

c.812C>T

1 paper

NM_025132.4

p.N277D

c.829A>G

1 paper

NM_025132.4

p.L278L

c.832C>T

1 paper

NM_025132.4

p.G265G

c.795T>C

1 paper

NM_025132.4

p.G262G

c.786A>G

1 paper

NM_025132.4

p.S284S

c.852A>G

1 paper

NM_025132.4

p.Q285_V290del6

c.853_869del18

5 papers

NM_025132.4

p.T261fs

c.781_782fs

1 paper

NM_025132.4

p.Q285R

c.854A>G

7 papers

NM_025132.4

p.T261insFs

c.781dupA

1 paper

NM_025132.4

p.V255M

c.763G>A