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.F254L

c.762T>A

Surrounding Variants

1 paper

NM_025132.4

p.F254L

c.762T>G

1 paper

NM_025132.4

p.V255M

c.763G>A

1 paper

NM_025132.4

p.F254L

c.760T>C

1 paper

NM_025132.4

p.S250*

c.749C>A

1 paper

NM_025132.4

p.S250*

c.749C>G

2 papers

NM_025132.4

p.F249S

c.746T>C

7 papers

NM_025132.4

p.T261insFs

c.781dupA

5 papers

NM_025132.4

p.T261fs

c.781_782fs

2 papers

NM_025132.4

p.G248S

c.742G>A

1 paper

NM_025132.4

p.G262G

c.786A>G

1 paper

NM_025132.4

p.I245_G248del0

c.735_743del9

1 paper

NM_025132.4

p.R244_I245delFs

c.732_733delCA