Varaico: Literature-Extracted Genetic Variants

IGHMBP2

353 papers

RefSeq Summary

This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory...

Pfam Domains

SMUBP-2_HCS1_1Baa 10–139UCSCHelicase SMUBP-2/HCS1, 1B domain

AAA_11aa 191–411UCSCAAA domain

AAA_12aa 418–615UCSCAAA domain

R3Haa 726–784UCSCR3H domain

zf-AN1aa 897–937UCSCAN1-like Zinc finger

Gene Aliases

HGNC Name

immunoglobulin mu DNA binding protein 2

HGNC Alias Symbols

ZFAND7; SMUBP2; CATF1; SMARD1; HCSA; HMN6; CMT2S

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_002180.3

p.E928K

c.2782G>A

Surrounding Variants

2 papers

NM_002180.3

p.E928_I929Splc

c.2784+1G>A

1 paper

NM_002180.3

p.H925fs

c.2773_2774fs

2 papers

NM_002180.3

p.H925delFs

c.2773delC

9 papers

NM_002180.3

p.H924Y

c.2770C>T

3 papers

NM_002180.3

p.Y920C

c.2759A>G

2 papers

NM_002180.3

p.R918C

c.2752C>T

1 paper

NM_002180.3

p.C916Y

c.2747G>A

3 papers

NM_002180.3

p.E928_I929Splc

c.2784+54G>A

2 papers

NM_002180.3

p.N895K

c.2685C>A

1 paper

NM_002180.3

p.A893V

c.2678C>T

13 papers

NM_002180.3

p.T879K

c.2636C>A

2 papers

NM_002180.3

p.G871fs

c.2611_2612fs