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.I88T

c.263T>C

Surrounding Variants

1 paper

NM_002180.3

p.G86Splc

c.257-1G>A

3 papers

NM_002180.3

p.L91P

c.272T>C

1 paper

NM_002180.3

p.A94delFs

c.281delC

1 paper

NM_002180.3

p.N96D

c.286A>G

2 papers

NM_002180.3

p.G98fs

c.292_293fs

1 paper

NM_002180.3

p.G98_L101Fs

c.292_303delinsATGCTFs

1 paper

NM_002180.3

p.Q100*

c.298C>T

1 paper

NM_002180.3

p.A102D

c.305C>A

1 paper

NM_002180.3

p.I105V

c.313A>G

1 paper

NM_002180.3

p.Q111*

c.331C>T

1 paper

NM_002180.3

p.S113L

c.338C>T

13 papers

NM_002180.3

p.T115M

c.344C>T