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.Y327C

c.980A>G

Surrounding Variants

3 papers

NM_020779.4

p.R332*

c.994C>T

1 paper

NM_020779.4

p.N334H

c.1000A>C

1 paper

NM_020779.4

p.N334delFs

c.1000_1001delTT

1 paper

NM_020779.4

p.I318N

c.953T>A

6 papers

NM_020779.4

p.W311L

c.932G>T

1 paper

NM_020779.4

p.S307P

c.919T>C

1 paper

NM_020779.4

p.G303R

c.907G>C

1 paper

NM_020779.4

p.G303R

c.907G>A

1 paper

NM_020779.4

p.L296delFs

c.888delC

1 paper

NM_020779.4

p.P351P

c.1053T>C

2 papers

NM_020779.4

p.R353P

c.1058G>C

1 paper

NM_020779.4

p.E355*

c.1063G>T