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_052989.3

p.P986delFs

c.2958delC

Surrounding Variants

1 paper

NM_052989.3

p.Q1005*

c.3013C>T

1 paper

NM_052985.4

p.Q1056P

c.3167A>C

1 paper

NM_052985.4

p.L1076_Y1077insFs

c.3228_3229insG

1 paper

NM_052989.3

p.Y1026delFs

c.3077delA

2 papers

NM_052985.4

p.Y1077fs

c.3229_3230fs

1 paper

NM_052989.3

p.V1054M

c.3160G>A

1 paper

NM_052989.3

p.V1054A

c.3161T>C

1 paper

NM_052989.3

p.R1059H

c.3176G>A

1 paper

NM_052989.3

p.N1076_C1077insFs

c.3228_3229insG

1 paper

NM_052985.4

p.T1013_E1014Splc

c.3039+4A>G

1 paper

NM_052989.3

p.I958delFs

c.2872delA

1 paper

NM_052989.3

p.Q946*

c.2836C>T