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.R35L

c.104G>T

Surrounding Variants

2 papers

NM_000051.4

p.R35Q

c.104G>A

1 paper

NM_000051.4

p.R35P

c.104G>C

1 paper

NM_000051.4

p.R35_D36insFs

c.105_106ins5

2 papers

NM_000051.4

p.R35R

c.103C>A

4 papers

NM_000051.4

p.R35G

c.103C>G

95 papers

NM_000051.4

p.R35*

c.103C>T

1 paper

NM_000051.4

p.D36N

c.106G>A

1 paper

NM_000051.4

p.D36fs

c.106_107fs

1 paper

NM_000051.4

p.D36_P37insAA

c.106_110ins6

1 paper

NM_000051.4

p.I34I

c.102T>A

2 papers

NM_000051.4

p.I34I

c.102T>C

5 papers

NM_000051.4

p.D36G

c.107A>G