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_018671.5

p.E752D

c.2256G>T

Surrounding Variants

1 paper

NM_018671.5

p.E752D

c.2256G>C

1 paper

NM_018671.5

p.A756_L757del2

c.2266_2270del6

1 paper

NM_018671.5

p.N744S

c.2231A>G

1 paper

NM_018671.5

p.I763S

c.2288T>G

1 paper

NM_018671.5

p.R768W

c.2302C>T

1 paper

NM_018671.5

p.V733A

c.2198T>C

1 paper

NM_018671.5

p.Y731C

c.2192A>G

4 papers

NM_018671.5

p.E728K

c.2182G>A

1 paper

NM_018671.5

p.P695L

c.2084C>T

1 paper

NM_018671.5

p.A692V

c.2075C>T

1 paper

NM_001039675.2

p.R676_A677Splc

c.2028+1G>A

1 paper

NM_018671.5

p.G688E

c.2063G>A