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

3 papers

NM_018671.5

p.V438D

c.1313T>A

NM_001039675.2

p.V423D

c.1268T>A

Surrounding Variants

1 paper

NM_018671.5

p.G437C

c.1309G>T

1 paper

NM_018671.5

p.E451D

c.1353G>C

1 paper

NM_018671.5

p.E451D

c.1353G>T

1 paper

NM_018671.5

p.Q423L

c.1268A>T

1 paper

NM_018671.5

p.S419Y

c.1256C>A

1 paper

NM_018671.5

p.T417M

c.1250C>T

1 paper

NM_018671.5

p.G466S

c.1396G>A

1 paper

NM_018671.5

p.R470Q

c.1409G>A

1 paper

NM_018671.5

p.A471_S472insCAA

c.1411_1415ins9

3 papers

NM_018671.5

p.D484fs

c.1450_1451fs

2 papers

NM_018671.5

p.D484Fs

c.1452delinsGCFs

1 paper

NM_018671.5

p.D484E

c.1452C>A