Varaico: Literature-Extracted Genetic Variants

THADA

207 papers

RefSeq Summary

This gene is the target of 2p21 choromosomal aberrations in benign thyroid adenomas. Single nucleotide polymorphisms (SNPs) in this gene may be associated with type 2 diabetes and polycystic ovary syn...

Pfam Domains

TPR_Trm732aa 522–804UCSCTrm732, TPR repeats

DUF2428aa 947–1248UCSCTHADA/TRM732, DUF2428

TPR_Trm732_Caa 1250–1413UCSCTrm732, C-terminal TPR repeats

Gene Aliases

HGNC Name

THADA armadillo repeat containing

HGNC Alias Symbols

FLJ21877; KIAA1767; GITA; ARMC13; Trm732

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_022065.5

p.C299*

c.897T>A

Surrounding Variants

1 paper

NM_022065.5

p.L297delFs

c.889delG

1 paper

NM_022065.5

p.L297F

c.889C>T

1 paper

NM_022065.5

p.Q304Q

c.912G>A

1 paper

NM_022065.5

p.V307F

c.919G>T

1 paper

NM_022065.5

p.F290L

c.870T>G

1 paper

NM_022065.5

p.F290L

c.870T>A

1 paper

NM_022065.5

p.F290L

c.868T>C

1 paper

NM_022065.5

p.W289*

c.866G>A

1 paper

NM_022065.5

p.E288E

c.864G>A

1 paper

NM_022065.5

p.Q312H

c.936G>T

1 paper

NM_022065.5

p.Q312H

c.936G>C

1 paper

NM_022065.5

p.V281L

c.841G>T