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.S1118delFs

c.3353delC

Surrounding Variants

2 papers

NM_025132.4

p.G1120R

c.3358G>C

1 paper

NM_025132.4

p.A1109V

c.3326C>T

1 paper

NM_025132.4

p.A1106T

c.3316G>A

1 paper

NM_025132.4

p.A1106delFs

c.3317delC

11 papers

NM_025132.4

p.R1103*

c.3307C>T

2 papers

NM_025132.4

p.K1087_D1088Splc

c.3262-2A>G

2 papers

NM_025132.4

p.Y1122_R1123insT

c.3364_3368ins3

2 papers

NM_025132.4

p.A1125V

c.3374C>T

2 papers

NM_025132.4

p.Q1139R

c.3416A>G

1 paper

NM_025132.4

p.G1084S

c.3250G>A

1 paper

NM_025132.4

p.I1075insFs

c.3224_3225ins8

1 paper

NM_025132.4

p.M1152T

c.3455T>C