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.L2450*

c.7349T>A

Surrounding Variants

2 papers

NM_000051.4

p.L2450*

c.7349T>G

1 paper

NM_000051.4

p.A2451_A2454delFs

c.7351_7360del10

1 paper

NM_000051.4

p.L2450insFs

c.7349_7350insT

1 paper

NM_000051.4

p.A2451T

c.7351G>A

4 papers

NM_000051.4

p.A2451P

c.7351G>C

1 paper

NM_000051.4

p.A2451S

c.7351G>T

2 papers

NM_000051.4

p.E2449A

c.7346A>C

1 paper

NM_000051.4

p.E2449G

c.7346A>G

2 papers

NM_000051.4

p.A2451V

c.7352C>T

1 paper

NM_000051.4

p.A2451A

c.7353C>T

1 paper

NM_000051.4

p.E2449K

c.7345G>A

2 papers

NM_000051.4

p.E2449*

c.7345G>T