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

2 papers

NM_052985.4

p.V553G

c.1658T>G

NM_052989.3

p.V502G

c.1505T>G

Surrounding Variants

1 paper

NM_052989.3

p.I500I

c.1500C>T

1 paper

NM_052985.4

p.Q547_I548Splc

c.1642-1G>A

1 paper

NM_052985.4

p.I548_K550del0

c.1642_1650del9

1 paper

NM_052989.3

p.I543_D544del2

c.1627_1631del6

1 paper

NM_052989.3

p.I543_D544del1

c.1629_1631delCGA

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.G461V

c.1382G>T

1 paper

NM_052989.3

p.Q551_E552Splc

c.1654-69C>A

1 paper

NM_052985.4

p.A606T

c.1816G>A

1 paper

NM_052989.3

p.F570C

c.1709T>G

3 papers

NM_052985.4

p.G623V

c.1868G>T

NM_052989.3

p.G572V

c.1715G>T