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.K867_K868delFs

c.2601_2604del4

Surrounding Variants

4 papers

NM_002180.3

p.K866_K867delFs

c.2598_2599delGA

1 paper

NM_002180.3

p.K866fs

c.2596_2597fs

4 papers

NM_002180.3

p.K868fs

c.2602_2603fs

2 papers

NM_002180.3

p.K866_K867delFs

c.2598_2601del4

1 paper

NM_002180.3

p.E863*

c.2587G>T

7 papers

NM_002180.3

p.G871Splc

c.2611+1G>T

2 papers

NM_002180.3

p.G857fs

c.2569_2570fs

2 papers

NM_002180.3

p.S856_G857delFs

c.2568_2569delAG

1 paper

NM_002180.3

p.A849_A855del7

c.2545_2564del21

1 paper

NM_002180.3

p.Q847fs

c.2539_2540fs

1 paper

NM_002180.3

p.L838L

c.2512C>T

1 paper

NM_002180.3

p.R837*

c.2509A>T