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

1–12 of 192 variants

14 papers

NM_020779.4

p.L641*

c.1922T>G

13 papers

NM_020779.4

p.L641*

c.1922T>A

10 papers

NM_020779.4

p.G69D

c.206G>A

8 papers

NM_001006657.2

p.L641*

c.1922T>G

8 papers

NM_001006657.2

p.L641*

c.1922T>A

6 papers

NM_020779.4

p.W311L

c.932G>T

5 papers

NM_020779.4

p.R1007C

c.3019C>T

4 papers

NM_020779.4

p.K8_I9Splc

c.25-2A>G

4 papers

NM_020779.4

p.N626S

c.1877A>G

3 papers

NM_020779.4

p.D48Splc

c.143-18T>A

3 papers

NM_020779.4

p.S168R

c.502A>C

3 papers

NM_020779.4

p.S168R

c.504T>G