Varaico: Literature-Extracted Genetic Variants

TMEM132A

67 papers

RefSeq Summary

This gene encodes a protein that is highly similar to the rat Grp78-binding protein (GBP). Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSe...

Pfam Domains

TMEM132_Naa 48–112UCSCTMEM132 N-terminal

Ig_TMEM132_2ndaa 122–229UCSCTMEM132 second Ig-like domain

TMEM132_3rdaa 246–396UCSCTMEM132 cohesin-like domain

Ig_TMEM132_4thaa 398–495UCSCTMEM132 fourth domain

Ig_TMEM132_5thaa 498–634UCSCTMEM132 fifth domain

Ig_TMEM132_6thaa 635–750UCSCTMEM132 sixth domain

Gene Aliases

HGNC Name

transmembrane protein 132A

HGNC Previous Symbol

HSPA5BP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_178031.3

p.F81L

c.241T>C

Surrounding Variants

1 paper

NM_178031.3

p.F81L

c.243T>A

1 paper

NM_178031.3

p.F81L

c.243T>G

1 paper

NM_178031.3

p.E79Q

c.235G>C

1 paper

NM_178031.3

p.A90P

c.268G>C

1 paper

NM_178031.3

p.L50Q

c.149T>A

1 paper

NM_178031.3

p.V107fs

c.319_320fs

1 paper

NM_178031.3

p.V107delFs

c.321delC

1 paper

NM_178031.3

p.G153V

c.458G>T

1 paper

NM_178031.3

p.G155D

c.464G>A

1 paper

NM_178031.3

p.E204D

c.612G>C

2 papers

NM_178031.3

p.G220G

c.660C>T

1 paper

NM_178031.3

p.P233Q

c.698C>A