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.S536T

c.1607G>C

Surrounding Variants

2 papers

NM_025132.4

p.G538V

c.1613G>T

3 papers

NM_025132.4

p.E534*

c.1600G>T

1 paper

NM_025132.4

p.F539S

c.1616T>C

2 papers

NM_025132.4

p.I532T

c.1595T>C

1 paper

NM_025132.4

p.I532S

c.1595T>G

2 papers

NM_025132.4

p.Y541*

c.1623C>A

2 papers

NM_025132.4

p.Y541*

c.1623C>G

1 paper

NM_025132.4

p.C542R

c.1624T>C

1 paper

NM_025132.4

p.P522L

c.1565C>T

1 paper

NM_025132.4

p.P522S

c.1564C>T

1 paper

NM_025132.4

p.I520T

c.1559T>C

1 paper

NM_025132.4

p.I520fs

c.1558_1559fs