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

1–12 of 430 variants

27 papers

NM_002180.3

p.C496*

c.1488C>A

22 papers

NM_002180.3

p.T493I

c.1478C>T

16 papers

NM_002180.3

p.D565N

c.1693G>A

15 papers

NM_002180.3

p.R605*

c.1813C>T

14 papers

NM_002180.3

p.V580I

c.1738G>A

14 papers

NM_002180.3

p.T671A

c.2011A>G

13 papers

NM_002180.3

p.C46*

c.138T>A

13 papers

NM_002180.3

p.T115M

c.344C>T

13 papers

NM_002180.3

p.L361P

c.1082T>C

13 papers

NM_002180.3

p.R788*

c.2362C>T

13 papers

NM_002180.3

p.T879K

c.2636C>A

12 papers

NM_002180.3

p.G354S

c.1060G>A