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

2 papers

NM_020779.4

p.C236Y

c.707G>A

Surrounding Variants

1 paper

NM_020779.4

p.H241D

c.721C>G

1 paper

NM_020779.4

p.H241N

c.721C>A

1 paper

NM_020779.4

p.D244E

c.732C>A

1 paper

NM_020779.4

p.D232_D244delFs

c.695_731del37

1 paper

NM_020779.4

p.E221Q

c.661G>C

1 paper

NM_020779.4

p.E217K

c.649G>A

1 paper

NM_020779.4

p.W212fs

c.634_635fs

2 papers

NM_020779.4

p.A208P

c.622G>C

1 paper

NM_020779.4

p.S196fs

c.586_587fs

1 paper

NM_020779.4

p.M190_I191Splc

c.571-11A>G

1 paper

NM_020779.4

p.M254V

c.760A>G

1 paper

NM_020779.4

p.Q260L

c.779A>T