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.S662F

c.1985C>T

Surrounding Variants

1 paper

NM_018671.5

p.T660A

c.1978A>G

1 paper

NM_018671.5

p.S668Y

c.2003C>A

1 paper

NM_018671.5

p.V645L

c.1933G>C

1 paper

NM_018671.5

p.V645L

c.1933G>T

1 paper

NM_018671.5

p.R635W

c.1903C>T

2 papers

NM_018671.5

p.R633W

c.1897C>T

1 paper

NM_018671.5

p.L674fs

c.2020_2021fs

1 paper

NM_018671.5

p.V675M

c.2023G>A

1 paper

NM_018671.5

p.T683I

c.2048C>T

1 paper

NM_018671.5

p.G688E

c.2063G>A

1 paper

NM_001039675.2

p.R676_A677Splc

c.2028+1G>A

1 paper

NM_018671.5

p.D601N

c.1801G>A