Varaico: Literature-Extracted Genetic Variants

IFT122

109 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_IFT122_1staa 14–202UCSCIFT122 first beta-propeller

WD40aa 311–349UCSCWD domain, G-beta repeat

Beta-prop_IFT122_2ndaa 356–610UCSCIFT122 second beta-propeller

TPR_IFT122aa 617–979UCSCIFT122, TPR domain

Zn_ribbon_IFT122aa 1032–1076UCSCIFT122, zinc ribbon domain

Zn_ribbon_IFT122_Caa 1184–1221UCSCIFT122, C-terminal zinc ribbon domain

Gene Aliases

HGNC Name

intraflagellar transport 122

HGNC Previous Symbol

WDR10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_052989.3

p.A767delFs

c.2299delG

Surrounding Variants

1 paper

NM_052989.3

p.V768M

c.2302G>A

1 paper

NM_052989.3

p.R759I

c.2276G>T

1 paper

NM_052989.3

p.Q754H

c.2262G>C

1 paper

NM_052989.3

p.Q754H

c.2262G>T

1 paper

NM_052990.3

p.M681Splc

c.2042+2T>C

NM_052989.3

p.M792Splc

c.2375+2T>C

1 paper

NM_052989.3

p.E855E

c.2565G>A

1 paper

NM_052989.3

p.F732S

c.2195T>C

1 paper

NM_052989.3

p.L729fs

c.2185_2186fs

1 paper

NM_052989.3

p.D728delFs

c.2184delC

1 paper

NM_052989.3

p.Q882*

c.2644C>T

1 paper

NM_052989.3

p.K883delFs

c.2648delA

1 paper

NM_052989.3

p.K883fs

c.2647_2648fs