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

Selected Variant

1 paper

NM_006620.4

p.S623R

c.1869C>G

Surrounding Variants

1 paper

NM_006620.4

p.S623R

c.1869C>A

1 paper

NM_006620.4

p.S623R

c.1867A>C

1 paper

NM_006620.4

p.I617I

c.1851T>C

1 paper

NM_006620.4

p.K630*

c.1888A>T

NM_001145158.2

p.K588*

c.1762A>T

4 papers

NM_006620.4

p.R615*

c.1843C>T

1 paper

NM_006620.4

p.K614R

c.1841A>G

2 papers

NM_006620.4

p.V612I

c.1834G>A

1 paper

NM_006620.4

p.A611T

c.1831G>A

1 paper

NM_006620.4

p.E609G

c.1826A>G

1 paper

NM_006620.4

p.A641V

c.1922C>T

2 papers

NM_006620.4

p.R668C

c.2002C>T

1 paper

NM_006620.4

p.G670D

c.2009G>A