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.K391_A392insFs

c.1173_1174insT

Surrounding Variants

1 paper

NM_020779.4

p.A392fs

c.1174_1175fs

1 paper

NM_020779.4

p.A389_T390delFs

c.1167_1168delTA

1 paper

NM_020779.4

p.T390fs

c.1168_1169fs

1 paper

NM_020779.4

p.L388_A389insFs

c.1164_1165insTA

1 paper

NM_020779.4

p.N395Y

c.1183A>T

1 paper

NM_020779.4

p.Q398_F399Splc

c.1194+1G>A

1 paper

NM_020779.4

p.G383_D384insFs

c.1149_1150insT

1 paper

NM_020779.4

p.I379delFs

c.1137delA

1 paper

NM_020779.4

p.E355*

c.1063G>T

2 papers

NM_020779.4

p.R353P

c.1058G>C

1 paper

NM_020779.4

p.P351P

c.1053T>C

1 paper

NM_020779.4

p.N334delFs

c.1000_1001delTT