Varaico: Literature-Extracted Genetic Variants

DEF6

64 papers

RefSeq Summary

DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OM...

Pfam Domains

EF-hand_SWAP70_Naa 1–95UCSCSwitch-associated protein 70-like, N-terminal EF-hand domain

PHaa 217–312UCSCPH domain

Gene Aliases

HGNC Name

DEF6 guanine nucleotide exchange factor

HGNC Alias Symbols

IBP; SLAT; SWAP70L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022047.4

p.R349Q

c.1046G>A

Surrounding Variants

1 paper

NM_022047.4

p.L350P

c.1049T>C

1 paper

NM_022047.4

p.R339C

c.1015C>T

4 papers

NM_022047.4

p.E331K

c.991G>A

1 paper

NM_022047.4

p.Q373*

c.1117C>T

1 paper

NM_022047.4

p.Q314*

c.940C>T

1 paper

NM_022047.4

p.Y290F

c.869A>T

2 papers

NM_022047.4

p.N287T

c.860A>C

1 paper

NM_022047.4

p.N287H

c.859A>C

1 paper

NM_022047.4

p.R278H

c.833G>A

1 paper

NM_022047.4

p.Q411delFs

c.1231delC

1 paper

NM_022047.4

p.A412_E413delFs

c.1235_1239del5

1 paper

NM_022047.4

p.A421D

c.1262C>A