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.Q303L

c.908A>T

Surrounding Variants

1 paper

NM_052989.3

p.S305Y

c.914C>A

1 paper

NM_052989.3

p.V312delFs

c.935_936delTG

1 paper

NM_052989.3

p.L314F

c.940C>T

1 paper

NM_052985.4

p.Y339fs

c.1015_1016fs

1 paper

NM_052985.4

p.E370fs

c.1108_1109fs

1 paper

NM_052985.4

p.Y339_L348delFs

c.1016_1043del28

4 papers

NM_052985.4

p.S373F

c.1118C>T

NM_052989.3

p.S322F

c.965C>T

1 paper

NM_052989.3

p.N334H

c.1000A>C

1 paper

NM_052989.3

p.N334I

c.1001A>T

1 paper

NM_052985.4

p.D393V

c.1178A>T

1 paper

NM_052989.3

p.K360*

c.1078A>T

1 paper

NM_052989.3

p.D361N

c.1081G>A