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.G461V

c.1382G>T

Surrounding Variants

1 paper

NM_052989.3

p.G495R

c.1483G>A

1 paper

NM_052989.3

p.G495R

c.1483G>C

1 paper

NM_052989.3

p.H445_I446del1

c.1335_1337delCAT

1 paper

NM_052989.3

p.K432N

c.1296G>C

1 paper

NM_052989.3

p.S416*

c.1247C>A

1 paper

NM_052989.3

p.S416*

c.1247C>G

1 paper

NM_052985.4

p.I548_K550del0

c.1642_1650del9

1 paper

NM_052985.4

p.Q547_I548Splc

c.1642-1G>A

1 paper

NM_052989.3

p.I500I

c.1500C>T

2 papers

NM_052985.4

p.V553G

c.1658T>G

NM_052989.3

p.V502G

c.1505T>G

1 paper

NM_052989.3

p.K393M

c.1178A>T

1 paper

NM_052989.3

p.V391L

c.1171G>C