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

1 paper

NM_002180.3

p.V588I

c.1762G>A

Surrounding Variants

1 paper

NM_002180.3

p.G586D

c.1757G>A

2 papers

NM_002180.3

p.R595W

c.1783C>T

5 papers

NM_002180.3

p.N598K

c.1794C>A

5 papers

NM_002180.3

p.N598K

c.1794C>G

1 paper

NM_002180.3

p.A600V

c.1799C>T

3 papers

NM_002180.3

p.R603C

c.1807C>T

6 papers

NM_002180.3

p.R603H

c.1808G>A

15 papers

NM_002180.3

p.R605*

c.1813C>T

4 papers

NM_002180.3

p.R605Q

c.1814G>A

1 paper

NM_002180.3

p.R606H

c.1817G>A

1 paper

NM_002180.3

p.V608M

c.1822G>A

1 paper

NM_002180.3

p.A621T

c.1861G>A