Varaico: Literature-Extracted Genetic Variants

HBS1L

174 papers

RefSeq Summary

This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene...

Pfam Domains

HBS1_Naa 46–129UCSCHBS1 N-terminus

GTP_EFTUaa 94–316UCSCElongation factor Tu GTP binding domain

GTP_EFTUaa 258–480UCSCElongation factor Tu GTP binding domain

GTP_EFTU_D2aa 338–405UCSCElongation factor Tu domain 2

GTP-eEF1A_Caa 416–516UCSCGTP-eEF1A C-terminal domain-like

GTP_EFTU_D2aa 502–569UCSCElongation factor Tu domain 2

Gene Aliases

HGNC Name

HBS1 like translational GTPase

HGNC Alias Symbols

ERFS; HBS1; HSPC276; KIAA1038; DKFZp434g247; EF-1a; eRF3c

Papers

RefSeq ID

Protein change

DNA change

1–12 of 145 variants

5 papers

NM_006620.4

p.D15Splc

c.44-1G>A

4 papers

NM_006620.4

p.R615*

c.1843C>T

3 papers

NM_006620.4

p.A37Splc

c.110-1G>A

3 papers

NM_006620.4

p.E681_I682Splc

c.2043+1G>T

2 papers

NM_006620.4

p.D13E

c.39T>G

2 papers

NM_006620.4

p.D13E

c.39T>A

2 papers

NM_006620.4

p.D15Splc

c.44-6T>C

2 papers

NM_006620.4

p.D15Splc

c.44-1G>T

2 papers

NM_006620.4

p.E27K

c.79G>A

2 papers

NM_006620.4

p.E55K

c.163G>A

2 papers

NM_006620.4

p.S182P

c.544T>C

2 papers

NM_006620.4

p.K332Q

c.994A>C