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.E558*

c.1672G>T

Surrounding Variants

1 paper

NM_002180.3

p.P557A

c.1669C>G

3 papers

NM_002180.3

p.H556D

c.1666C>G

1 paper

NM_002180.3

p.I561T

c.1682T>C

1 paper

NM_002180.3

p.D565_G566del1

c.1694_1696delATG

16 papers

NM_002180.3

p.D565N

c.1693G>A

1 paper

NM_002180.3

p.Q550insFs

c.1649_1650insC

2 papers

NM_002180.3

p.Q568*

c.1702C>T

1 paper

NM_002180.3

p.D546A

c.1637A>C

1 paper

NM_002180.3

p.G569G

c.1707C>T

2 papers

NM_002180.3

p.R570*

c.1708C>T

1 paper

NM_002180.3

p.K572del1

c.1714_1715delAAG

1 paper

NM_002180.3

p.A574T

c.1720G>A