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

1–12 of 361 variants

22 papers

NM_025132.4

p.L710S

c.2129T>C

22 papers

NM_025132.4

p.R1178Q

c.3533G>A

11 papers

NM_025132.4

p.R1103*

c.3307C>T

10 papers

NM_025132.4

p.H1189Splc

c.3565+1G>A

10 papers

NM_025132.4

p.E1235K

c.3703G>A

8 papers

NM_025132.4

p.L214insFs

c.641dupT

8 papers

NM_025132.4

p.G495R

c.1483G>C

7 papers

NM_025132.4

p.L7P

c.20T>C

7 papers

NM_025132.4

p.T261insFs

c.781dupA

7 papers

NM_025132.4

p.N273D

c.817A>G

6 papers

NM_025132.4

p.Q228*

c.682C>T

6 papers

NM_025132.4

p.V345G

c.1034T>G