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.L313L

c.939G>A

Surrounding Variants

1 paper

NM_178031.3

p.D314G

c.941A>G

1 paper

NM_178031.3

p.R315H

c.944G>A

1 paper

NM_178031.3

p.H321Y

c.961C>T

1 paper

NM_178031.3

p.H322N

c.964C>A

1 paper

NM_178031.3

p.I326L

c.976A>C

1 paper

NM_178031.3

p.A301T

c.901G>A

1 paper

NM_178031.3

p.I290N

c.869T>A

1 paper

NM_178031.3

p.P340H

c.1019C>A

1 paper

NM_178031.3

p.S356R

c.1066A>C

1 paper

NM_178031.3

p.S356R

c.1068C>A

1 paper

NM_178031.3

p.S356R

c.1068C>G

1 paper

NM_178031.3

p.A362G

c.1085C>G