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.Y368Y

c.1104C>T

Surrounding Variants

3 papers

NM_002180.3

p.F369L

c.1105T>C

3 papers

NM_002180.3

p.F369L

c.1107C>A

3 papers

NM_002180.3

p.F369L

c.1107C>G

1 paper

NM_002180.3

p.E366K

c.1096G>A

1 paper

NM_002180.3

p.E366*

c.1096G>T

1 paper

NM_002180.3

p.P365L

c.1094C>T

1 paper

NM_002180.3

p.P365del1

c.1093_1095delCCC

1 paper

NM_002180.3

p.L364P

c.1091T>C

1 paper

NM_002180.3

p.L364L

c.1090C>T

4 papers

NM_002180.3

p.V373G

c.1118T>G

1 paper

NM_002180.3

p.D375_E376insFs

c.1124_1127dup4

1 paper

NM_002180.3

p.K362insFs

c.1085dupA