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.T554fs

c.1660_1661fs

Surrounding Variants

1 paper

NM_000051.4

p.T554A

c.1660A>G

1 paper

NM_000051.4

p.T554delFs

c.1661delC

1 paper

NM_000051.4

p.T554fs

c.1660_1661fs

9 papers

NM_000051.4

p.T554M

c.1661C>T

1 paper

NM_000051.4

p.T554T

c.1662G>A

1 paper

NM_000051.4

p.G553V

c.1658G>T

8 papers

NM_000051.4

p.T554delFs

c.1660delA

2 papers

NM_000051.4

p.G553R

c.1657G>A

4 papers

NM_000051.4

p.V555L

c.1663G>C

2 papers

NM_000051.4

p.G553R

c.1657G>C

1 paper

NM_000051.4

p.V555L

c.1663G>T

1 paper

NM_000051.4

p.P552ins3

c.1655_1656ins9