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

6 papers

NM_000051.4

p.S614T

c.1841G>C

Surrounding Variants

2 papers

NM_000051.4

p.S614N

c.1841G>A

1 paper

NM_000051.4

p.S614insFs

c.1842dupT

2 papers

NM_000051.4

p.S614I

c.1841G>T

2 papers

NM_000051.4

p.S614R

c.1840A>C

1 paper

NM_000051.4

p.S614C

c.1840A>T

2 papers

NM_000051.4

p.S614R

c.1842T>A

2 papers

NM_000051.4

p.S614R

c.1842T>G

1 paper

NM_000051.4

p.L615_N619delFs

c.1843_1856del14

3 papers

NM_000051.4

p.L615F

c.1843C>T

6 papers

NM_000051.4

p.L615P

c.1844T>C

2 papers

NM_000051.4

p.V613G

c.1838T>G

1 paper

NM_000051.4

p.L615L

c.1845C>T