Varaico: Literature-Extracted Genetic Variants

BLM

1,316 papers

RefSeq Summary

The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation i...

Pfam Domains

BLM_Naa 1–368UCSCN-terminal region of Bloom syndrome protein

BDHCTaa 372–412UCSCBDHCT (NUC031) domain

BDHCT_assocaa 425–647UCSCBDHCT-box associated domain on Bloom syndrome protein

DEADaa 669–841UCSCDEAD/DEAH box helicase

Helicase_Caa 873–984UCSCHelicase conserved C-terminal domain

RecQ_Zn_bindaa 995–1067UCSCRecQ zinc-binding

Gene Aliases

HGNC Name

BLM RecQ like helicase

HGNC Alias Symbols

BS; RECQL3; RECQ2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

15 papers

NM_000057.4

p.Y736fs

c.2206_2207fs

Surrounding Variants

1 paper

NM_000057.4

p.Y736H

c.2206T>C

12 papers

NM_000057.4

p.Y736fs

c.2206_2207fs

4 papers

NM_000057.4

p.Y736_L737del1

c.2207_2209delATC

1 paper

NM_000057.4

p.Y736_T738del0

c.2207_2212del6

5 papers

NM_000057.4

p.Y736insFs

c.2206dupT

2 papers

NM_000057.4

p.Y736C

c.2207A>G

1 paper

NM_000057.4

p.T735T

c.2205A>T

3 papers

NM_000057.4

p.Y736del1

c.2206_2207delTAT

2 papers

NM_000057.4

p.Y736_T738Fs

c.2207_2212delinsTFs

2 papers

NM_000057.4

p.Y736_T738delins

c.2207_2212delinsTAG

1 paper

NM_000057.4

p.Y736_T738Fs

c.2207_2212delinsTAGATFs

32 papers

NM_000057.4

p.Y736_T738Fs

c.2207_2212delinsTAGATTCFs