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.S877R

c.2629A>C

Surrounding Variants

2 papers

NM_000051.4

p.S877fs

c.2629_2630fs

1 paper

NM_000051.4

p.S877G

c.2629A>G

2 papers

NM_000051.4

p.S877N

c.2630G>A

8 papers

NM_000051.4

p.S877T

c.2630G>C

1 paper

NM_000051.4

p.S877R

c.2631T>A

1 paper

NM_000051.4

p.S877R

c.2631T>G

1 paper

NM_000051.4

p.T878P

c.2632A>C

7 papers

NM_000051.4

p.T878A

c.2632A>G

2 papers

NM_000051.4

p.T878S

c.2632A>T

1 paper

NM_000051.4

p.S877insFs

c.2629_2630insA

2 papers

NM_000051.4

p.Q876*

c.2626C>T

1 paper

NM_000051.4

p.S877delFs

c.2629delA