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

2 papers

NM_002180.3

p.L330P

c.989T>C

Surrounding Variants

2 papers

NM_002180.3

p.L330_E332delFs

c.990_994del5

4 papers

NM_002180.3

p.K328fs

c.982_983fs

1 paper

NM_002180.3

p.E334K

c.1000G>A

5 papers

NM_002180.3

p.K328_E329delFs

c.983_987del5

1 paper

NM_002180.3

p.L339_E340del0

c.1015_1020del6

5 papers

NM_002180.3

p.R320*

c.958C>T

1 paper

NM_002180.3

p.L342F

c.1024C>T

1 paper

NM_002180.3

p.N318N

c.954T>C

2 papers

NM_002180.3

p.A345E

c.1034C>A

1 paper

NM_002180.3

p.V348A

c.1043T>C

2 papers

NM_002180.3

p.N307D

c.919A>G

12 papers

NM_002180.3

p.G354S

c.1060G>A