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.I1393fs

c.4177_4178fs

Surrounding Variants

1 paper

NM_000051.4

p.Y1392*

c.4176T>A

1 paper

NM_000051.4

p.Y1392insFs

c.4176dupT

1 paper

NM_000051.4

p.Y1392C

c.4175A>G

1 paper

NM_000051.4

p.S1394fs

c.4180_4181fs

1 paper

NM_000051.4

p.S1394G

c.4180A>G

3 papers

NM_000051.4

p.Y1392insFs

c.4174_4175insC

2 papers

NM_000051.4

p.A1391A

c.4173C>G

1 paper

NM_000051.4

p.Y1392delFs

c.4174delT

1 paper

NM_000051.4

p.S1394N

c.4181G>A

1 paper

NM_000051.4

p.S1394I

c.4181G>T

1 paper

NM_000051.4

p.S1394delFs

c.4182delC

1 paper

NM_000051.4

p.A1391S

c.4171G>T