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_052985.4

p.A688_D694delins

c.2063_2082delinsGCGTG

Surrounding Variants

1 paper

NM_052989.3

p.V641G

c.1922T>G

1 paper

NM_052989.3

p.D626G

c.1877A>G

1 paper

NM_052989.3

p.M621T

c.1862T>C

1 paper

NM_052989.3

p.M621R

c.1862T>G

1 paper

NM_052985.4

p.Q668_S669Splc

c.2005-13T>A

1 paper

NM_052989.3

p.Y674S

c.2021A>C

1 paper

NM_052989.3

p.H586Q

c.1758C>A

1 paper

NM_052989.3

p.H586Q

c.1758C>G

3 papers

NM_052985.4

p.G623V

c.1868G>T

NM_052989.3

p.G572V

c.1715G>T

1 paper

NM_052989.3

p.F570C

c.1709T>G

1 paper

NM_052985.4

p.A606T

c.1816G>A

1 paper

NM_052989.3

p.Q551_E552Splc

c.1654-69C>A