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.G3051E

c.9152G>A

Surrounding Variants

2 papers

NM_000051.4

p.G3051A

c.9152G>C

8 papers

NM_000051.4

p.G3051V

c.9152G>T

2 papers

NM_000051.4

p.G3051G

c.9153A>C

5 papers

NM_000051.4

p.G3051R

c.9151G>A

5 papers

NM_000051.4

p.G3051R

c.9151G>C

1 paper

NM_000051.4

p.G3051fs

c.9151_9152fs

1 paper

NM_000051.4

p.G3051*

c.9151G>T

10 papers

NM_000051.4

p.P3050L

c.9149C>T

7 papers

NM_000051.4

p.W3052*

c.9155G>A

4 papers

NM_000051.4

p.W3052S

c.9155G>C

3 papers

NM_000051.4

p.P3050S

c.9148C>T

7 papers

NM_000051.4

p.W3052*

c.9156G>A