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.K208*

c.622A>T

Surrounding Variants

1 paper

NM_025132.4

p.G207D

c.620G>A

2 papers

NM_025132.4

p.L206P

c.617T>C

1 paper

NM_025132.4

p.L206delFs

c.616delC

1 paper

NM_025132.4

p.L211fs

c.631_632fs

8 papers

NM_025132.4

p.L214insFs

c.641dupT

1 paper

NM_025132.4

p.L214delFs

c.641delT

1 paper

NM_025132.4

p.V205_G207delFs

c.613_619del7

5 papers

NM_025132.4

p.L214fs

c.640_641fs

1 paper

NM_025132.4

p.M201_I202Splc

c.604-1G>A

3 papers

NM_025132.4

p.L214*

c.641T>A

3 papers

NM_025132.4

p.L214*

c.641T>G

1 paper

NM_025132.4

p.L214F

c.642A>C