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.H401R

c.1202A>G

Surrounding Variants

3 papers

NM_002180.3

p.D400N

c.1198G>A

2 papers

NM_002180.3

p.G399D

c.1196G>A

2 papers

NM_002180.3

p.G399S

c.1195G>A

1 paper

NM_002180.3

p.A398E

c.1193C>A

1 paper

NM_002180.3

p.A398V

c.1193C>T

1 paper

NM_002180.3

p.T407_T408del2

c.1219_1223del6

1 paper

NM_002180.3

p.C395R

c.1183T>C

1 paper

NM_002180.3

p.R393K

c.1178G>A

4 papers

NM_002180.3

p.K412Splc

c.1235+3A>G

1 paper

NM_002180.3

p.L389P

c.1166T>C

1 paper

NM_002180.3

p.K412Splc

c.1235+5G>A

1 paper

NM_002180.3

p.L389delFs

c.1165delC