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.S378C

c.1132A>T

Surrounding Variants

4 papers

NM_000051.4

p.S378R

c.1132A>C

11 papers

NM_000051.4

p.S378G

c.1132A>G

1 paper

NM_000051.4

p.S378N

c.1133G>A

2 papers

NM_000051.4

p.S377S

c.1131T>A

4 papers

NM_000051.4

p.S378R

c.1134T>A

4 papers

NM_000051.4

p.S378R

c.1134T>G

1 paper

NM_000051.4

p.D379N

c.1135G>A

3 papers

NM_000051.4

p.D379insFs

c.1135_1136insA

2 papers

NM_000051.4

p.E376D

c.1128A>C

1 paper

NM_000051.4

p.D379A

c.1136A>C

2 papers

NM_000051.4

p.E376D

c.1128A>T

1 paper

NM_000051.4

p.E376G

c.1127A>G