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.E774A

c.2321A>C

Surrounding Variants

3 papers

NM_002180.3

p.S772S

c.2316C>T

1 paper

NM_002180.3

p.S772_G773insFs

c.2316_2319dup4

2 papers

NM_002180.3

p.R785fs

c.2353_2354fs

8 papers

NM_002180.3

p.A786delFs

c.2356delG

1 paper

NM_002180.3

p.A786fs

c.2356_2357fs

3 papers

NM_002180.3

p.A786fs

c.2356_2357fs

1 paper

NM_002180.3

p.P787L

c.2360C>T

13 papers

NM_002180.3

p.R788*

c.2362C>T

1 paper

NM_002180.3

p.P789delFs

c.2365delC

1 paper

NM_002180.3

p.P789fs

c.2365_2366fs

4 papers

NM_002180.3

p.R790*

c.2368C>T

2 papers

NM_002180.3

p.R757Q

c.2270G>A