Varaico: Literature-Extracted Genetic Variants

DEFA1

98 papers

RefSeq Summary

Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfa...

Pfam Domains

Defensin_propepaa 1–52UCSCDefensin propeptide

Defensin_1aa 66–94UCSCMammalian defensin

Gene Aliases

HGNC Name

defensin alpha 1

HGNC Previous Symbols

DEF1; DEFA2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 27 variants

1 paper

NM_004084.4

p.M1V

c.1A>G

1 paper

NM_004084.4

p.M1T

c.2T>C

1 paper

NM_004084.4

p.R2K

c.5G>A

1 paper

NM_004084.4

p.T3T

c.9C>T

1 paper

NM_004084.4

p.L4H

c.11T>A

1 paper

NM_004084.4

p.A9A

c.27C>A

1 paper

NM_004084.4

p.I10insFs

c.28_29insA

1 paper

NM_004084.4

p.V13E

c.38T>A

1 paper

NM_004084.4

p.A26P

c.76G>C

1 paper

NM_004084.4

p.D27H

c.79G>C

1 paper

NM_004084.4

p.D27N

c.79G>A

1 paper

NM_004084.4

p.E28K

c.82G>A