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

4 papers

NM_000051.4

p.Y741C

c.2222A>G

Surrounding Variants

1 paper

NM_000051.4

p.Y741*

c.2223T>A

1 paper

NM_000051.4

p.Y741*

c.2223T>G

1 paper

NM_000051.4

p.K742_E744del3

c.2224_2231del9

1 paper

NM_000051.4

p.A740A

c.2220A>C

5 papers

NM_000051.4

p.A740A

c.2220A>G

4 papers

NM_000051.4

p.K742*

c.2224A>T

1 paper

NM_000051.4

p.K742R

c.2225A>G

3 papers

NM_000051.4

p.K742M

c.2225A>T

2 papers

NM_000051.4

p.A740T

c.2218G>A

2 papers

NM_000051.4

p.A740P

c.2218G>C

2 papers

NM_000051.4

p.K742N

c.2226G>C

1 paper

NM_000051.4

p.A740fs

c.2218_2219fs