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

1 paper

NM_020779.4

p.E1000V

c.2999A>T

Surrounding Variants

1 paper

NM_020779.4

p.E1000_V1001del2

c.2998_3002del6

1 paper

NM_020779.4

p.S1003Y

c.3008C>A

5 papers

NM_020779.4

p.R1007C

c.3019C>T

1 paper

NM_001006657.2

p.A1027T

c.3079G>A

1 paper

NM_020779.4

p.A1018D

c.3053C>A

1 paper

NM_001006657.2

p.H1031Y

c.3091C>T

1 paper

NM_020779.4

p.Q1026K

c.3076C>A

1 paper

NM_020779.4

p.L1029F

c.3085C>T

1 paper

NM_020779.4

p.A1041Splc

c.3121+12A>C

2 papers

NM_020779.4

p.K983R

c.2948A>G

2 papers

NM_020779.4

p.R979*

c.2935C>T

3 papers

NM_020779.4

p.E972G

c.2915A>G