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.E628*

c.1882G>T

Surrounding Variants

1 paper

NM_002180.3

p.A621T

c.1861G>A

1 paper

NM_002180.3

p.E635G

c.1904A>G

6 papers

NM_002180.3

p.R637C

c.1909C>T

1 paper

NM_002180.3

p.R637L

c.1910G>T

1 paper

NM_002180.3

p.T638T

c.1914G>A

1 paper

NM_002180.3

p.A639T

c.1915G>A

2 papers

NM_002180.3

p.Y642H

c.1924T>C

2 papers

NM_002180.3

p.V647I

c.1939G>A

1 paper

NM_002180.3

p.V608M

c.1822G>A

1 paper

NM_002180.3

p.R606H

c.1817G>A

4 papers

NM_002180.3

p.R605Q

c.1814G>A

15 papers

NM_002180.3

p.R605*

c.1813C>T