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.K777T

c.2330A>C

Surrounding Variants

1 paper

NM_020779.4

p.G767delFs

c.2299delC

1 paper

NM_020779.4

p.R763L

c.2288G>T

1 paper

NM_020779.4

p.L762I

c.2284C>A

1 paper

NM_001006657.2

p.A805del1

c.2413_2414delGGC

1 paper

NM_001006657.2

p.N803_I806del0

c.2408_2416del9

1 paper

NM_020779.4

p.A808V

c.2423C>T

4 papers

NM_001006657.2

p.D841V

c.2522A>T

NM_020779.4

p.D830V

c.2489A>T

2 papers

NM_020779.4

p.E832E

c.2496A>G

3 papers

NM_020779.4

p.E843E

c.2529A>G

2 papers

NM_020779.4

p.F743V

c.2227T>G

1 paper

NM_020779.4

p.V736L

c.2206G>C

1 paper

NM_020779.4

p.E729insFs

c.2187dupG