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.T373A

c.1117A>G

Surrounding Variants

1 paper

NM_000051.4

p.T373K

c.1118C>A

5 papers

NM_000051.4

p.T373R

c.1118C>G

1 paper

NM_000051.4

p.T373I

c.1118C>T

1 paper

NM_000051.4

p.T372T

c.1116T>G

2 papers

NM_000051.4

p.T372I

c.1115C>T

1 paper

NM_000051.4

p.T372P

c.1114A>C

3 papers

NM_000051.4

p.T372A

c.1114A>G

3 papers

NM_000051.4

p.T372fs

c.1114_1115fs

1 paper

NM_000051.4

p.Q374fs

c.1120_1121fs

4 papers

NM_000051.4

p.Q374*

c.1120C>T

1 paper

NM_000051.4

p.Q374delFs

c.1121delA

14 papers

NM_000051.4

p.Q374delFs

c.1121_1122delAA