Varaico: Literature-Extracted Genetic Variants

WDR35

189 papers

RefSeq Summary

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may fac...

Pfam Domains

Beta-prop_WDR35_TULP_Naa 1–332UCSCWDR35/TULP4 N-terminal

Beta-prop_WDR35_2ndaa 337–667UCSCWDR35 second beta-propeller

TPR_IFT80_172aa 698–803UCSCIFT80/172/WDR35/WDR19 TPR domain

TPR_WDR35aa 911–980UCSCWD repeat-containing protein 35, TPR repeats

TPR_IFT121aa 1021–1120UCSCIFT121-like, TPR repeats

Zf_2nd_IFT121aa 1138–1181UCSCIFT121, second zinc finger domain

Gene Aliases

HGNC Name

WD repeat domain 35

HGNC Alias Symbols

MGC33196; KIAA1336; IFT121; IFTA1; FAP118; CFAP118

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_020779.4

p.S168R

c.502A>C

Surrounding Variants

3 papers

NM_020779.4

p.S168R

c.504T>G

3 papers

NM_020779.4

p.S168R

c.504T>A

1 paper

NM_020779.4

p.A176S

c.526G>T

1 paper

NM_020779.4

p.K152delFs

c.456delT

1 paper

NM_020779.4

p.D153fs

c.457_458fs

2 papers

NM_020779.4

p.Y183Y

c.549C>T

1 paper

NM_020779.4

p.D184G

c.551A>G

1 paper

NM_020779.4

p.G146Splc

c.437-1G>A

1 paper

NM_020779.4

p.M190_I191Splc

c.571-11A>G

1 paper

NM_020779.4

p.S196fs

c.586_587fs

2 papers

NM_020779.4

p.A208P

c.622G>C

1 paper

NM_020779.4

p.W212fs

c.634_635fs