Varaico: Literature-Extracted Genetic Variants

UNC45A

74 papers

RefSeq Summary

This gene encodes a regulatory component of the progesterone receptor/heat shock protein 90 chaperoning complex, which functions in the assembly and folding of the progesterone receptor. The encoded p...

Pfam Domains

TPR_16aa 25–92UCSCTetratricopeptide repeat

TPR_8aa 92–125UCSCTetratricopeptide repeat

UNC45-centralaa 313–530UCSCMyosin-binding striated muscle assembly central

Gene Aliases

HGNC Name

unc-45 myosin chaperone A

HGNC Alias Symbols

SMAP-1; GC-UNC45

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001039675.2

p.Q864*

c.2590C>T

Surrounding Variants

2 papers

NM_001039675.2

p.Q861*

c.2581C>T

2 papers

NM_001039675.2

p.S878L

c.2633C>T

1 paper

NM_018671.5

p.L864L

c.2590C>T

1 paper

NM_018671.5

p.T860S

c.2579C>G

1 paper

NM_018671.5

p.T860S

c.2578A>T

1 paper

NM_018671.5

p.D916E

c.2748C>A

1 paper

NM_018671.5

p.D916E

c.2748C>G

2 papers

NM_001039675.2

p.C912G

c.2734T>G

1 paper

NM_018671.5

p.M848fs

c.2542_2543fs

2 papers

NM_018671.5

p.M848del1

c.2542_2543delATG

1 paper

NM_018671.5

p.M848_R849delFs

c.2542_2545del4

1 paper

NM_018671.5

p.L845_R849del0

c.2534_2545del12