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.Y2049*

c.6147T>A

Surrounding Variants

2 papers

NM_000051.4

p.Y2049*

c.6147T>G

1 paper

NM_000051.4

p.Y2049C

c.6146A>G

1 paper

NM_000051.4

p.D2050H

c.6148G>C

2 papers

NM_000051.4

p.D2050Y

c.6148G>T

9 papers

NM_000051.4

p.Y2049D

c.6145T>G

1 paper

NM_000051.4

p.Y2049insFs

c.6145_6146insA

2 papers

NM_000051.4

p.Y2049fs

c.6145_6146fs

1 paper

NM_000051.4

p.Y2049delFs

c.6146delA

1 paper

NM_000051.4

p.Y2049fs

c.6145_6146fs

1 paper

NM_000051.4

p.T2048K

c.6143C>A

1 paper

NM_000051.4

p.T2048I

c.6143C>T

3 papers

NM_000051.4

p.Y2049delFs

c.6146_6147delAT