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.E440G

c.1319A>G

Surrounding Variants

1 paper

NM_022047.4

p.A441S

c.1321G>T

1 paper

NM_022047.4

p.R450Q

c.1349G>A

1 paper

NM_022047.4

p.V455L

c.1363G>C

1 paper

NM_022047.4

p.V455L

c.1363G>T

1 paper

NM_022047.4

p.R425W

c.1273C>T

1 paper

NM_022047.4

p.A421D

c.1262C>A

1 paper

NM_022047.4

p.A412_E413delFs

c.1235_1239del5

1 paper

NM_022047.4

p.Q411delFs

c.1231delC

1 paper

NM_022047.4

p.R482C

c.1444C>T

1 paper

NM_022047.4

p.A487A

c.1461G>A

1 paper

NM_022047.4

p.Q373*

c.1117C>T

1 paper

NM_022047.4

p.K532K

c.1596A>G