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

22 papers

NM_002180.3

p.T493I

c.1478C>T

Surrounding Variants

2 papers

NM_002180.3

p.G495S

c.1483G>A

1 paper

NM_002180.3

p.V491M

c.1471G>A

27 papers

NM_002180.3

p.C496*

c.1488C>A

2 papers

NM_002180.3

p.G497R

c.1489G>A

1 paper

NM_002180.3

p.G497R

c.1489G>C

1 paper

NM_002180.3

p.Q507*

c.1519C>T

1 paper

NM_002180.3

p.S508L

c.1523C>T

2 papers

NM_002180.3

p.V478M

c.1432G>A

1 paper

NM_002180.3

p.P476L

c.1427C>T

1 paper

NM_002180.3

p.N511S

c.1532A>G

1 paper

NM_002180.3

p.D474E

c.1422C>A

1 paper

NM_002180.3

p.D474E

c.1422C>G