Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.I495V

c.1483A>G

Surrounding Variants

1 paper

NM_000051.4

p.I495K

c.1484T>A

2 papers

NM_000051.4

p.I495T

c.1484T>C

3 papers

NM_000051.4

p.I495R

c.1484T>G

5 papers

NM_000051.4

p.G494D

c.1481G>A

1 paper

NM_000051.4

p.S496R

c.1486A>C

1 paper

NM_000051.4

p.G494fs

c.1480_1481fs

2 papers

NM_000051.4

p.S496N

c.1487G>A

1 paper

NM_000051.4

p.S497insFs

c.1489dupT

2 papers

NM_000051.4

p.S496I

c.1487G>T

1 paper

NM_000051.4

p.G494delFs

c.1480delG

1 paper

NM_000051.4

p.R493H

c.1478G>A

1 paper

NM_000051.4

p.R493P

c.1478G>C