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.L7P

c.20T>C

Surrounding Variants

5 papers

NM_025132.4

p.F5S

c.14T>C

2 papers

NM_025132.4

p.T11_W12delFs

c.31_35del5

1 paper

NM_025132.4

p.T11fs

c.31_32fs

1 paper

NM_025132.4

p.T11fs

c.31_32fs

1 paper

NM_025132.4

p.R3H

c.8G>A

1 paper

NM_025132.4

p.P16insFs

c.46dupC

1 paper

NM_025132.4

p.F19fs

c.55_56fs

3 papers

NM_025132.4

p.F19C

c.56T>G

1 paper

NM_025132.4

p.Q22fs

c.64_65fs

3 papers

NM_025132.4

p.A30P

c.88G>C

2 papers

NM_025132.4

p.A30insFs

c.89_90ins4

1 paper

NM_025132.4

p.V31fs

c.91_92fs