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.E170D

c.510G>C

Surrounding Variants

1 paper

NM_052989.3

p.E170D

c.510G>T

1 paper

NM_052985.4

p.P223S

c.667C>T

1 paper

NM_052989.3

p.I179M

c.537A>G

1 paper

NM_052989.3

p.S181_I182delFs

c.543_544delCA

1 paper

NM_052985.4

p.R210W

c.628C>T

1 paper

NM_052989.3

p.I155V

c.463A>G

1 paper

NM_052989.3

p.N153H

c.457A>C

1 paper

NM_052985.4

p.W170*

c.509G>A

1 paper

NM_052989.3

p.S188Splc

c.564-92T>C

1 paper

NM_052989.3

p.S188Splc

c.564-72C>A

1 paper

NM_052985.4

p.E254G

c.761A>G

1 paper

NM_052989.3

p.D204V

c.611A>T