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.K1398N

c.4194A>T

Surrounding Variants

1 paper

NM_000051.4

p.K1398N

c.4194A>C

2 papers

NM_000051.4

p.T1399S

c.4195A>T

1 paper

NM_000051.4

p.T1399fs

c.4195_4196fs

2 papers

NM_000051.4

p.K1398E

c.4192A>G

2 papers

NM_000051.4

p.T1399N

c.4196C>A

2 papers

NM_000051.4

p.T1399S

c.4196C>G

1 paper

NM_000051.4

p.K1400_K1402del3

c.4198_4205del9

1 paper

NM_000051.4

p.T1399insFs

c.4195dupA

2 papers

NM_000051.4

p.H1397R

c.4190A>G

8 papers

NM_000051.4

p.K1400*

c.4198A>T

1 paper

NM_000051.4

p.K1400N

c.4200G>C

1 paper

NM_000051.4

p.K1400N

c.4200G>T