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.*3057G

c.9169T>G

Surrounding Variants

2 papers

NM_000051.4

p.*3057delFs

c.9170_9171delGA

1 paper

NM_000051.4

p.V3056V

c.9168G>A

5 papers

NM_000051.4

p.*3057S

c.9170G>C

1 paper

NM_000051.4

p.*3057L

c.9170G>T

1 paper

NM_000051.4

p.*3057C

c.9171A>C

1 paper

NM_000051.4

p.*3057W

c.9171A>G

2 papers

NM_000051.4

p.*3057C

c.9171A>T

1 paper

NM_000051.4

p.V3056M

c.9166G>A

8 papers

NM_000051.4

p.V3056L

c.9166G>C

9 papers

NM_000051.4

p.V3056L

c.9166G>T

1 paper

NM_000051.4

p.V3056fs

c.9166_9167fs

2 papers

NM_000051.4

p.W3055*

c.9165G>A