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

1–12 of 127 variants

6 papers

NM_052989.3

p.W7C

c.21G>C

6 papers

NM_052989.3

p.W7C

c.21G>T

4 papers

NM_052989.3

p.C1229Y

c.3686G>A

2 papers

NM_052989.3

p.V77G

c.230T>G

2 papers

NM_052985.4

p.S373F

c.1118C>T

2 papers

NM_052989.3

p.S322F

c.965C>T

2 papers

NM_052989.3

p.G572V

c.1715G>T

2 papers

NM_052989.3

p.P986delFs

c.2958delC

2 papers

NM_052985.4

p.Y1077fs

c.3229_3230fs

1 paper

NM_052989.3

p.D9Y

c.25G>T

1 paper

NM_052989.3

p.D9E

c.27T>A

1 paper

NM_052989.3

p.D9E

c.27T>G