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.E586V

c.1757A>T

Surrounding Variants

1 paper

NM_000051.4

p.G587delFs

c.1760delG

3 papers

NM_000051.4

p.E586K

c.1756G>A

1 paper

NM_000051.4

p.E586E

c.1758G>A

4 papers

NM_000051.4

p.E586D

c.1758G>C

1 paper

NM_000051.4

p.E586Q

c.1756G>C

4 papers

NM_000051.4

p.E586D

c.1758G>T

1 paper

NM_000051.4

p.E586delFs

c.1757delA

1 paper

NM_000051.4

p.G587fs

c.1759_1760fs

1 paper

NM_000051.4

p.G587C

c.1759G>T

1 paper

NM_000051.4

p.G587fs

c.1759_1760fs

1 paper

NM_000051.4

p.G587D

c.1760G>A

2 papers

NM_000051.4

p.L585*

c.1754T>A