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

10 papers

NM_025132.4

p.E1235K

c.3703G>A

Surrounding Variants

1 paper

NM_025132.4

p.K1233fs

c.3697_3698fs

2 papers

NM_025132.4

p.R1239Splc

c.3716+1G>A

1 paper

NM_025132.4

p.R1223H

c.3668G>A

2 papers

NM_025132.4

p.R1223C

c.3667C>T

10 papers

NM_025132.4

p.H1189Splc

c.3565+1G>A

1 paper

NM_025132.4

p.S1188*

c.3563C>A

1 paper

NM_025132.4

p.S1188*

c.3563C>G

1 paper

NM_025132.4

p.F1186delFs

c.3557delT

1 paper

NM_025132.4

p.V1179G

c.3536T>G

22 papers

NM_025132.4

p.R1178Q

c.3533G>A

1 paper

NM_025132.4

p.R1178W

c.3532C>T

2 papers

NM_025132.4

p.G1172E

c.3515G>A