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

2 papers

NM_000051.4

p.C1482F

c.4445G>T

Surrounding Variants

6 papers

NM_000051.4

p.C1482Y

c.4445G>A

1 paper

NM_000051.4

p.C1482S

c.4445G>C

1 paper

NM_000051.4

p.C1482_M1484ins1

c.4446_4451dup6

1 paper

NM_000051.4

p.C1482S

c.4444T>A

1 paper

NM_000051.4

p.C1482R

c.4444T>C

2 papers

NM_000051.4

p.I1483F

c.4447A>T

1 paper

NM_000051.4

p.S1481C

c.4442C>G

4 papers

NM_000051.4

p.S1481F

c.4442C>T

1 paper

NM_000051.4

p.I1483delFs

c.4449delC

1 paper

NM_000051.4

p.M1484_D1485delFs

c.4450_4453del4

2 papers

NM_000051.4

p.M1484fs

c.4450_4451fs

1 paper

NM_000051.4

p.M1484V

c.4450A>G