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.N416N

c.1248T>C

Surrounding Variants

1 paper

NM_025132.4

p.A417Splc

c.1249+9A>G

1 paper

NM_025132.4

p.V412delFs

c.1235delT

1 paper

NM_025132.4

p.N405T

c.1214A>C

2 papers

NM_025132.4

p.V402delFs

c.1206delA

1 paper

NM_025132.4

p.N391K

c.1173C>A

1 paper

NM_025132.4

p.N391K

c.1173C>G

2 papers

NM_025132.4

p.P390L

c.1169C>T

2 papers

NM_025132.4

p.V388M

c.1162G>A

1 paper

NM_025132.4

p.V386F

c.1156G>T

1 paper

NM_025132.4

p.G378_E379Splc

c.1134+3A>G

1 paper

NM_025132.4

p.P375fs

c.1123_1124fs

1 paper

NM_025132.4

p.P375fs

c.1123_1124fs