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.S663G

c.1987A>G

Surrounding Variants

1 paper

NM_020779.4

p.I657_R661del5

c.1969_1982del15

2 papers

NM_020779.4

p.R661P

c.1982G>C

1 paper

NM_020779.4

p.K669N

c.2007G>T

1 paper

NM_020779.4

p.K669N

c.2007G>C

1 paper

NM_020779.4

p.F678Y

c.2033T>A

1 paper

NM_020779.4

p.E680D

c.2040G>T

1 paper

NM_020779.4

p.R689H

c.2066G>A

1 paper

NM_020779.4

p.L701I

c.2101C>A

1 paper

NM_001006657.2

p.L712delFs

c.2134delG

1 paper

NM_020779.4

p.T703T

c.2109T>G

1 paper

NM_020779.4

p.A707delFs

c.2120delG

1 paper

NM_001006657.2

p.R721C

c.2161C>T